ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.480G>C (p.Gln160His)

dbSNP: rs771532474
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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 RCV000800510 SCV000940229 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-10-16 criteria provided, single submitter clinical testing This variant has been observed in combination with another CLCN1 variant in a family and several individuals affected with myotonia congenita (PMID: 20047568, 26502825, Invitae). This sequence change replaces glutamine with histidine at codon 160 of the CLCN1 protein (p.Gln160His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs771532474, ExAC 0.001%). Experimental studies have shown that this missense change results in altered chloride channel function (PMID: 26502825). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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