ClinVar Miner

Submissions for variant NC_000007.14:g.(?_143324401)_(143331662_?)del

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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 RCV001032941 SCV001196248 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-12-11 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 7-10 of the CLCN1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CLCN1-related conditions. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). For these reasons, this variant has been classified as Pathogenic.

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