ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)

gnomAD frequency: 0.00007  dbSNP: rs771263688
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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) RCV000597143 SCV000706084 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV001315412 SCV001505986 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-06-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 14 of the CAPN3 protein (p.Ala14Val). This variant is present in population databases (rs771263688, gnomAD 0.004%). 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: 500229). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
GeneDx RCV000597143 SCV001825047 uncertain significance not provided 2020-08-06 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000597143 SCV003828943 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001315412 SCV002094424 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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