SUCLA2

succinate-CoA ligase ADP-forming subunit beta

Summary

Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]

Known Variants349 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1039713:48,516,845G/T—benign
rs7461569213:48,516,925A/C—benign
rs88605025613:48,517,038T/C—uncertain significance
rs194969717813:48,517,071T/C—uncertain significance
rs194969719313:48,517,072A/C—uncertain significance
rs88605025713:48,517,075C/G—uncertain significance
rs194969760313:48,517,115T/C—uncertain significance
rs87954074013:48,517,126G/A—uncertain significance
rs88605025813:48,517,157G/C—uncertain significance
rs77668817113:48,517,175G/T—uncertain significance
rs1324313:48,517,178T/C—benign
rs53446919713:48,517,187T/A—uncertain significance
rs77292002813:48,517,254G/A—uncertain significance
rs18412566513:48,517,286G/A—uncertain significance
rs494161813:48,517,289A/G—benign
rs14932150513:48,517,301A/G—benign
rs88605026013:48,517,311T/C—uncertain significance
rs146174625213:48,517,322C/T—uncertain significance
rs11595914313:48,517,374T/C—likely benign
rs88605026113:48,517,471A/C—uncertain significance
rs155525552413:48,517,492A/T—benign
rs14987740513:48,517,533C/T—likely benign
rs75414154213:48,517,545C/T—likely benign
rs14496905713:48,517,548C/T—conflicting classifications of pathogenicity
rs77828063013:48,517,563T/C—likely benign
rs77489514513:48,517,566A/G—likely benign
rs254166276513:48,517,568A/G—uncertain significance
rs254166277413:48,517,571G/A—uncertain significance
rs14038323713:48,517,578A/G—conflicting classifications of pathogenicity
rs101152095213:48,517,590A/T—likely benign
rs254166279413:48,517,591A/C—likely benign
rs126029501013:48,517,592G/C—likely benign
rs36959038213:48,517,595C/T—conflicting classifications of pathogenicity
rs36969002913:48,517,599G/A—likely benign
rs11554857113:48,522,887G/A—likely benign
rs7318775613:48,522,908T/G—benign
rs956278513:48,522,909T/C—benign
rs194975592113:48,523,066C/A—likely benign
rs254166797513:48,523,103C/G—uncertain significance
rs14444119913:48,523,122C/T—uncertain significance
rs76517865013:48,523,129C/T—likely benign
rs76191238813:48,523,141C/T—likely benign
rs14782945513:48,523,144A/G—likely benign
rs76041424813:48,523,152C/T—uncertain significance
rs76546530813:48,523,153G/A—likely benign
rs76422488913:48,523,172G/T—likely benign
rs75164192913:48,523,174T/C—uncertain significance
rs254166810813:48,523,178T/C—likely benign
rs75772469613:48,523,179G/A—likely benign
rs11655637813:48,523,287A/G—likely benign
rs494161913:48,523,407C/T—benign
rs1742588113:48,523,567T/C—benign
rs76322873313:48,523,603A/G—likely benign
rs254166865313:48,523,610A/G—likely benign
rs96065967413:48,523,614T/C—uncertain significance
rs122363818113:48,523,619T/C—uncertain significance
rs213768802213:48,523,621G/A—likely pathogenic
rs14129577013:48,523,626C/Amissense variantpathogenic
rs123324999113:48,523,627G/A—conflicting classifications of pathogenicity
rs254166869113:48,523,637A/T—likely benign
rs254166870313:48,523,658T/C—likely benign
rs77842931813:48,523,698C/T—uncertain significance
rs78174467113:48,523,699G/A—uncertain significance
rs145985004813:48,523,703G/A—likely benign
rs75473126513:48,523,705T/C—uncertain significance
rs77778199713:48,523,734A/T—uncertain significance
rs254166880513:48,523,739C/T—likely pathogenic
rs37469536313:48,523,742T/A—likely benign
rs36859092713:48,523,747A/G—likely benign
rs118763772413:48,523,757G/A—likely benign
rs14614481013:48,523,783A/C—likely benign
rs4128420113:48,523,797C/A—likely benign
rs7348920713:48,523,869C/A—benign
rs7434738013:48,523,952C/T—benign
rs11465963013:48,523,996C/T—likely benign
rs1287452213:48,524,020T/C—benign
rs956795813:48,524,042A/T—benign
rs7717589113:48,527,997T/C—likely benign
rs733382113:48,528,007A/G—benign
rs733420713:48,528,178A/G—benign
rs254167311413:48,528,256T/C—likely benign
rs254167312213:48,528,264C/G—likely benign
rs213769401613:48,528,265C/G—likely benign
rs254167312813:48,528,268C/G—likely benign
rs11741255913:48,528,283C/A—uncertain significance
rs130289461613:48,528,293A/C—likely benign
rs254167316213:48,528,295G/C—uncertain significance
rs15099698313:48,528,306T/G—uncertain significance
rs74651635613:48,528,308T/G—conflicting classifications of pathogenicity
rs254167319713:48,528,327G/A—uncertain significance
rs124503699013:48,528,336C/A—uncertain significance
rs128220835613:48,528,339A/C—uncertain significance
rs117168937613:48,528,353G/T—likely benign
rs120615028213:48,528,362C/A—likely benign
rs133790707313:48,528,365T/G—likely benign
rs143289962413:48,528,371A/T—likely benign
rs125452567513:48,528,380T/G—likely benign
rs254167327813:48,528,381A/G—uncertain significance
rs14096329013:48,528,384T/C—pathogenic
rs97269642813:48,528,385C/A—likely pathogenic

Showing 100 of 349 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.