ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)

dbSNP: rs1586510870
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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 RCV000791909 SCV000931176 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2018-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CLCN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp595*) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. A different variant (c.1785G>A) giving rise to the same protein effect observed here (p.Trp595*) has been reported in an individual affected with myotonia congenita (PMID: 23739125). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125).

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