ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)

dbSNP: rs1586499614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822873 SCV000963695 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg453Profs*56) 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: 664719). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV004997389 SCV005621358 pathogenic not provided 2023-10-16 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 tested at Athena Diagnostics with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org)

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