ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) (rs1233836740)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004953 SCV001164483 uncertain significance Limb-girdle muscular dystrophy, type 2L 2018-12-03 criteria provided, single submitter research The heterozygous p.Cys804Ser variant in ANO5 was identified by our study in the compound heterozygous state, with a likely pathogenic variant, in two siblings with limb-girdle muscular dystrophy (LGMD). The presence of this variant in combination with a likely pathogenic variant and in an individual with LGMD increases the likelihood that the p.Cys804Ser variant is pathogenic. This variant was absent in large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Cys804Ser variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM3_Supporting (Richards 2015).

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