ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser)

dbSNP: rs745344072
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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 RCV000817468 SCV000958030 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2018-08-29 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. This variant has not been reported in the literature in individuals with CLCN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 9 of the CLCN1 protein (p.Arg9Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.

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