ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2172+1G>C

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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 RCV003779404 SCV004603782 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the CLCN1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with autosomal recessive myotonia congenita (PMID: 15116370; Invitae). Studies have shown that disruption of this splice site results in skipping of skipping of exon 17, but is expected to preserve the integrity of the reading-frame (PMID: 15116370). For these reasons, this variant has been classified as Pathogenic.

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