ClinVar Miner

Submissions for variant NC_000011.10:g.(?_2775960)_(2777032_?)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 RCV000466514 SCV000563802 pathogenic Long QT syndrome 2016-11-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region from 11:2,796,374-2,799,075 encompassing exons 13-14 of the KCNQ1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Similar deletions of exons 13-14 have been reported in the literature in individuals affected with long QT syndrome (PMID: 25564553, 18774102). Missense substitutions (p.Arg539Trp, p.Ser546Leu, p.Arg555Cys, p.Arg555His, p.Ser566Phe, p.Ile567Thr) within exons 13-14 are reported to be deleterious (PMID: 10728423, 9386136, 24372464, Invitae database). This indicates that exons 13-14 are important for KCNQ1 protein function. For these reasons, this variant has been classified as Pathogenic.

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