ClinVar Miner

Submissions for variant NC_000007.13:g.(?_143013350)_(143018251_?)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 RCV003119277 SCV003790243 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-19 criteria provided, single submitter clinical testing This variant results in the deletion of exons 2-3 and part of exon 1 (c.45_434-207del) of the CLCN1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 580190). This variant disrupts a region of the CLCN1 protein in which other variant(s) (p.Tyr137Asp) have been determined to be pathogenic (PMID: 22094069, 26502825). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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