ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)

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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 RCV003805267 SCV004592923 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. This variant is present in population databases (rs563275093, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gln43*) 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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