ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter)

dbSNP: rs1563074540
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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 RCV001908749 SCV002169038 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal recessive myotonia congenita (PMID: 31566103). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr206*) in 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 (PMID: 17932099, 22094069, 23739125).

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