ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2442G>C (p.Trp814Cys)

dbSNP: rs1595850277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243672 SCV001416845 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 814 of the CAPN3 protein (p.Trp814Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 27447704). ClinVar contains an entry for this variant (Variation ID: 968518). 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 disruptive. 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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