ClinVar Miner

Submissions for variant NC_000011.10:g.(?_2585212)_(2587692_?)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 RCV000470447 SCV000563803 pathogenic Long QT syndrome 2016-10-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-9 of the KCNQ1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Similar deletions of exons encompassing 8-9 have been reported in the literature in individuals affected with long QT syndrome (PMID:25494010, 24606995). Missense substitutions (p.Lys362Arg, p.Arg380Ser) within exons 8-9 are reported to be deleterious (PMID: 15840476, 24947509, 15840476, 17222736). This indicates that exons 8-9 are important for KCNQ1 protein function For these reasons, this sequence change has been classified as Pathogenic.

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