ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.919G>T (p.Val307Leu)

dbSNP: rs120074195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065918 SCV001230908 uncertain significance Long QT syndrome 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 307 of the KCNQ1 protein (p.Val307Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with short QT syndrome (PMID: 15159330). ClinVar contains an entry for this variant (Variation ID: 859740). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects KCNQ1 function (PMID: 11278406, 15159330, 19862833, 20436212). 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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