ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser)

gnomAD frequency: 0.00002  dbSNP: rs398123145
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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) RCV000078091 SCV000109929 uncertain significance not provided 2013-05-29 criteria provided, single submitter clinical testing
Invitae RCV000644988 SCV000766722 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 740 of the CAPN3 protein (p.Gly740Ser). This variant is present in population databases (rs398123145, gnomAD 0.008%). 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: 92410). 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. 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 RCV000078091 SCV003828987 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000644988 SCV001456371 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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