ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)

gnomAD frequency: 0.00013  dbSNP: rs140425651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000375518 SCV000331044 likely benign not specified 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV000644989 SCV000766723 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-11-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 691 of the CAPN3 protein (p.Gly691Arg). This variant is present in population databases (rs140425651, gnomAD 0.09%). 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: 281011). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Revvity Omics, Revvity RCV003144189 SCV003828979 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000644989 SCV001460846 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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