ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp)

gnomAD frequency: 0.00013  dbSNP: rs373512834
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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) RCV000594130 SCV000708786 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001048553 SCV001212566 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 592 of the CAPN3 protein (p.Arg592Trp). This variant is present in population databases (rs373512834, gnomAD 0.02%). This missense change has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 33337384). ClinVar contains an entry for this variant (Variation ID: 502158). 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 expected to disrupt CAPN3 protein function with a positive 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.
Illumina Laboratory Services, Illumina RCV001048553 SCV001274340 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001048553 SCV002085538 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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