ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2282A>C (p.Gln761Pro)

gnomAD frequency: 0.00003  dbSNP: rs373995517
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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) RCV000597537 SCV000704646 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV002531039 SCV003248356 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 761 of the CAPN3 protein (p.Gln761Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs373995517, ExAC 0.001%). 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: 499249). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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