ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2765_2766del (p.Val922fs)

dbSNP: rs1563091175
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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 RCV000700139 SCV000828883 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-10-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the CLCN1 protein. Other variant(s) that disrupt this region (p.Gly945Argfs*39) have been determined to be pathogenic (PMID: 18337100, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 577396). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CLCN1 gene (p.Val922Aspfs*61). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acids of the CLCN1 protein.

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