ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg)

dbSNP: rs1595831427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811593 SCV000951867 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 395 of the CAPN3 protein (p.Gly395Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000811593 SCV004171934 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A criteria provided, single submitter clinical testing

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