ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly)

gnomAD frequency: 0.00001  dbSNP: rs752046508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593761 SCV000702157 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing
Invitae RCV003517231 SCV004285915 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 396 of the CAPN3 protein (p.Glu396Gly). This variant is present in population databases (rs752046508, gnomAD 0.0009%). 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: 497565). 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 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.

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