ClinVar Miner

Submissions for variant NC_000011.9:g.(?_2591838)_(2610104_?)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 RCV003122192 SCV003788801 pathogenic Long QT syndrome 2022-12-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-10 of the KCNQ1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with clinical features of KCNQ1-related conditions (PMID: 26688388).

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