ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu)

dbSNP: rs1803022284
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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 RCV001203791 SCV001374968 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-06-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 499 of the CLCN1 protein (p.Gly499Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLCN1-related conditions. This variant has been reported to affect CLCN1 protein function (PMID: 10644771). This variant disrupts the p.Gly499 amino acid residue in CLCN1. Other variant(s) that disrupt this residue have been observed in individuals with CLCN1-related conditions (PMID: 10644771), which suggests that this may be a clinically significant amino acid residue. 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.

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