ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)

gnomAD frequency: 0.00001  dbSNP: rs201894078
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518160 SCV000612773 pathogenic not provided 2014-03-26 criteria provided, single submitter clinical testing
Invitae RCV000638229 SCV000759715 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg626*) 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 (rs201894078, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with non-dystrophic myotonia (PMID: 23113340). ClinVar contains an entry for this variant (Variation ID: 447058). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000518160 SCV002019335 pathogenic not provided 2021-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000518160 SCV004023003 pathogenic not provided 2023-07-27 criteria provided, single submitter clinical testing Observed in the heterozygous state in a patient with non-dystrophic myotonia in published literature (Lau et al., 2019); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32660787, 10619717, 23113340, 31069529, 34790634)

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