ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp)

gnomAD frequency: 0.00006  dbSNP: rs748363488
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644976 SCV000766705 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 713 of the CAPN3 protein (p.Asn713Asp). This variant is present in population databases (rs748363488, gnomAD 0.02%). 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: 536509). 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 not 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.
GeneDx RCV001766384 SCV001998038 uncertain significance not provided 2019-10-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014)
Fulgent Genetics, Fulgent Genetics RCV002507100 SCV002812734 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000644976 SCV002085555 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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