ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter)

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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 RCV003781262 SCV004573188 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr137*) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive myotonia congenita (PMID: 18337730). For these reasons, this variant has been classified as Pathogenic.

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