ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)

gnomAD frequency: 0.00024  dbSNP: rs146253209
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313399 SCV000344788 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001240554 SCV001413512 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 242 of the CAPN3 protein (p.Arg242Lys). This variant is present in population databases (rs146253209, gnomAD 0.09%). 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: 290267). 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 with a negative 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.
GeneDx RCV000313399 SCV001992556 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564623)
Revvity Omics, Revvity RCV000313399 SCV003828936 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001240554 SCV002094456 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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