ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val)

dbSNP: rs140828326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000380875 SCV000340092 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197711 SCV001368490 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2020-02-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Invitae RCV002519241 SCV002987159 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 506 of the CAPN3 protein (p.Ile506Val). This variant is present in population databases (rs140828326, gnomAD 0.007%). 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: 286601). 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.

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