ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu)

dbSNP: rs1802406774
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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 RCV001238197 SCV001410996 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2020-01-27 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in the homozygous state in an individual affected with myotonia congenita (PMID: 23456831). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 125 of the CLCN1 protein (p.Gly125Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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