ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.620A>C (p.Lys207Thr)

dbSNP: rs886043108
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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) RCV000313017 SCV000338482 uncertain significance not provided 2016-01-29 criteria provided, single submitter clinical testing
Invitae RCV001360530 SCV001556455 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-03-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 207 of the CAPN3 protein (p.Lys207Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. 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. 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 C0"). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 16141003, 30564623, 18055493). ClinVar contains an entry for this variant (Variation ID: 285460). This variant is not present in population databases (ExAC no frequency).
Revvity Omics, Revvity RCV000313017 SCV003828990 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing

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