ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter)

dbSNP: rs1554436799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578533 SCV000681331 likely pathogenic not provided 2018-01-04 criteria provided, single submitter clinical testing The Y393X variant in the CLCN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y393X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y393X as a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000802171 SCV000941989 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr393*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489334).

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