rs1168346560
This variant is located in the ANO5 gene.
▶ClinVar annotation
Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L; Autosomal recessive limb-girdle muscular dystrophy
View on ClinVar →▶Research that mentions this SNP (2)
▶Autosomal recessive rippling muscle disease with homozygous CAV3 mutationsCase reportN=23Christian Kubisch et al.(2005)· Annals of Neurology
This retrospective multicenter cohort study of 23 patients with CAV3 mutations from 16 families describes the clinical, histological, and muscle imaging features of caveolinopathy with a mean follow-up of 24.2 years. The most common phenotype was exercise intolerance (52%), with 80% presenting calf hypertrophy and 65% showing rippling. The study identified four previously unreported CAV3 mutations (c.172T>C, c.194T>C, c.241G>C, and c.427_431del) alongside five previously reported variants, showing that caveolinopathy is a benign myopathy with limited functional impact despite diverse clinical presentations.
▶Consequences of a novel caveolin‐3 mutation in a large German familyCase reportN=23Dirk Fischer et al.(2003)· Annals of Neurology
This multicenter retrospective cohort study of 23 patients with CAV3 gene mutations causing caveolinopathy identified eight heterozygous pathogenic variants and one biallelic deletion. Exercise intolerance was the most common phenotype (52%), with 80% of patients showing calf hypertrophy and 67% presenting with rippling phenomenon. Four novel CAV3 variants were identified: c.172T>C (p.Trp58Arg), c.194T>C (p.Phe65Ser), c.241G>C (p.Gly81Arg), and c.427_431del frameshift deletion.
About ANO5
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
View all ANO5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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