ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe)

dbSNP: rs886043143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396191 SCV000338661 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Medical Molecular Genetics Department, National Research Center RCV004764924 SCV005374907 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-10-10 criteria provided, single submitter clinical testing By applying ACMG guidelines: According to insilico studies, the variant is classified as deleterious (PP3),our study patient’s clinical phenotype is typically correlated to the disease (PP4), it showed an extremely low frequency in gnomAD population databases (PS4) additionally, by segregation analysis: the affected proband showed the same variant at the heterozygous status coupled with the previously reported variant in CAPN3 (NM_000070.2:c.1343G>A p.Arg448His) at the heterozygous form, while her healthy sibling showed the wild genotype for both alleles and parents were carriers (showed one allelic heterozygous status) (PP1). according to this data it is considered as likely pathogenic by ACMG guidlines.

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