ClinVar Miner

Submissions for variant NC_000011.9:g.(?_2604645)_(2604795_?)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 RCV004580128 SCV005062637 pathogenic Long QT syndrome 2023-10-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the KCNQ1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with long QT syndrome (PMID: 25889101). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects KCNQ1 function (PMID: 25889101). For these reasons, this variant has been classified as Pathogenic.

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