ClinVar Miner

Submissions for variant NC_000011.10:g.(?_2570608)_(2573006_?)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 RCV000823244 SCV000964095 pathogenic Long QT syndrome 2019-02-22 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 3-6 of the KCNQ1 gene. It preserves the integrity of the reading frame. Similar deletions of exons 3-6 have been reported in individuals affected with long QT syndrome (Invitae). Several missense substitutions located in exons 3-6 (p.Gly168Arg, p.Arg174Cys, p.Ala178Thr, p.Arg190Gln, and others) have been determined to be pathogenic (PMID: 9693036, 17905336, 10973849, 9386136, 23392653, 23130128, 9024139, 22456477, 10973849, 24912595, 8528244, 10728423, 20660394). This suggests that this region is critical for KCNQ1 protein function and that its deletion may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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