ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1384G>A (p.Asp462Asn)

gnomAD frequency: 0.00001  dbSNP: rs776205380
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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 RCV001210295 SCV001381775 uncertain significance Long QT syndrome 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 462 of the KCNQ1 protein (p.Asp462Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs776205380, ExAC 0.009%). This variant has not been reported in the literature in individuals with KCNQ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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