ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu)

gnomAD frequency: 0.00001  dbSNP: rs774834498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195873 SCV001366297 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2018-11-30 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: PP3.
Invitae RCV002559245 SCV003267942 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 371 of the CAPN3 protein (p.Asp371Glu). This variant is present in population databases (rs774834498, gnomAD 0.002%). This missense change has been observed in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 31066050). ClinVar contains an entry for this variant (Variation ID: 930311). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV003883574 SCV004698979 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing CAPN3: PM1, PM2:Supporting, PP2

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