ClinVar Miner

Submissions for variant NC_000007.14:g.(?_143345501)_(143350674_?)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 RCV000708052 SCV000837162 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-11-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 17-22 of the CLCN1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with autosomal recessive myotonia congenita (PMID: 22649220). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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