ClinVar Miner

Submissions for variant NC_000011.10:g.(?_2775954)_(2777038_?)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 RCV000800044 SCV000939741 pathogenic Long QT syndrome 2018-08-31 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 13-14 of the KCNQ1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Similar deletions of exons 13-14 have been reported in the literature in individuals affected with long QT syndrome (PMID: 25564553, 18774102). Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). For these reasons, this variant has been classified as Pathogenic.

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