ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter)

dbSNP: rs1554439817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384031 SCV001583395 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2016-10-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal at codon 807 (p.Gln807*) of the CLCN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLCN1 are known to be pathogenic. This particular variant has been reported in the literature in two individuals affected with myotonia congenita (PMID: 11933197, 23739125). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001783047 SCV002019333 pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing

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