ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.719A>G (p.His240Arg)

gnomAD frequency: 0.00003  dbSNP: rs533669726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842079 SCV001734131 uncertain significance Cardiac arrhythmia 2021-02-19 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 240 of the KCNQ1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that the mutant channel shows hyper-polarized ionic and gating current activation (PMID: 23359697). This variant has been reported in one case of sudden unexplained death and an individual affected with prolonged QT intervals in the same family (PMID: 26228265). This variant has been identified in 8/249160 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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