ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.626T>G (p.Met209Arg)

dbSNP: rs1802444087
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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 RCV001870896 SCV002134473 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-07-26 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 209 of the CLCN1 protein (p.Met209Arg). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and arginine.

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