ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del)

dbSNP: rs1564824264
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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 RCV000705141 SCV000834126 pathogenic Long QT syndrome 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the KCNQ1 protein in which other variant(s) (p.Thr312Ile) have been determined to be pathogenic (PMID: 8528244, 9323054, 10973849, 15051636, 21451124, 22456477, 22727609, 25294783). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies have shown that this variant affects KCNQ1 function (PMID: 30008122). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 581345). This variant has been observed in individual(s) with long QT syndrome (PMID: 30008122). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.935_937del, results in the deletion of 1 amino acid(s) of the KCNQ1 protein (p.Thr312del), but otherwise preserves the integrity of the reading frame.

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