ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys)

dbSNP: rs765181341
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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 RCV001976404 SCV002261686 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-03-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CLCN1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CLCN1 protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 276 of the CLCN1 protein (p.Gly276Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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