ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val)

gnomAD frequency: 0.00002  dbSNP: rs756657325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206321 SCV001377623 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 505 of the CAPN3 protein (p.Ala505Val). This variant is present in population databases (rs756657325, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 937334). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CAPN3 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001206321 SCV002085520 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-09-25 no assertion criteria provided clinical testing

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