ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg)

gnomAD frequency: 0.00003  dbSNP: rs752494680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050234 SCV001214333 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-12-04 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CLCN1-related conditions. This variant is present in population databases (rs752494680, ExAC 0.002%). This sequence change replaces cysteine with arginine at codon 815 of the CLCN1 protein (p.Cys815Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine.

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