ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2565del (p.Lys856fs)

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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 RCV002741394 SCV003014757 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys856Serfs*67) in the CLCN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 133 amino acid(s) of the CLCN1 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1974438). This variant disrupts a region of the CLCN1 protein in which other variant(s) (p.Gly945Argfs*39) have been determined to be pathogenic (PMID: 18337100; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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