ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2041G>A (p.Val681Met)

gnomAD frequency: 0.00008  dbSNP: rs553169803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644984 SCV000766717 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 681 of the CAPN3 protein (p.Val681Met). This variant is present in population databases (rs553169803, gnomAD 0.005%). 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: 536514). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CAPN3 protein function. 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.
Eurofins Ntd Llc (ga) RCV000730359 SCV000858089 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000644984 SCV001460845 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-03-11 no assertion criteria provided clinical testing

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