ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2962del (p.Leu988fs)

dbSNP: rs748329158
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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 RCV001043278 SCV001207005 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-04-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CLCN1 gene (p.Leu988Phefs*?). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last amino acid of the CLCN1 protein and extend the protein. This variant is present in population databases (rs748329158, ExAC 0.01%). This variant has not been reported in the literature in individuals 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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