ClinVar Miner

Submissions for variant NC_000011.9:g.(?_2549148)_(2683321_?)dup

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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 RCV003122196 SCV003788805 uncertain significance Long QT syndrome 2020-03-12 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 2-11 of the KCNQ1 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with KCNQ1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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