ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482654 SCV004229532 pathogenic not provided 2023-08-07 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV005216128 SCV005861429 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu422*) 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. For these reasons, this variant has been classified as Pathogenic.

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