ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)

dbSNP: rs773827877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732092 SCV000859997 likely pathogenic not provided 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855673 SCV002203480 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CAPN3 function (PMID: 15221789, 17236769, 20635405). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 445 of the CAPN3 protein (p.Gly445Arg). This variant is present in population databases (rs773827877, gnomAD 0.003%). This missense change has been observed in individuals with autosomal dominant limb-girdle muscular dystrophy (PMID: 10330340, 15221789, 17236769, 18854869; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 596306). 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 expected to disrupt CAPN3 protein function.
Baylor Genetics RCV004569417 SCV005059996 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-01-28 criteria provided, single submitter clinical testing

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