ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)

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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 RCV002475062 SCV002771227 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571533 SCV003490159 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-06-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu958*) in the CLCN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the CLCN1 protein. This variant is present in population databases (rs755731058, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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