ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del)

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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 RCV003648391 SCV004433688 pathogenic Long QT syndrome 2023-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant, c.721_726del, results in the deletion of 2 amino acid(s) of the KCNQ1 protein (p.Val241_Asp242del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. This variant disrupts a region of the KCNQ1 protein in which other variant(s) (p.Val241Phe) have been determined to be pathogenic (PMID: 23989646, 33600800; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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