ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del)

dbSNP: rs1803209334
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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 RCV002011313 SCV002302327 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-02-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CLCN1-related conditions. This variant, c.1955_1966del, results in the deletion of 4 amino acid(s) of the CLCN1 protein (p.Val652_Ser655del), but otherwise preserves the integrity of the reading frame.

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