ClinVar Miner

Submissions for variant NC_000007.13:g.(?_143042594)_(143044062_?)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 RCV001951342 SCV002238513 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 17-20 of the CLCN1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125).

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