ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp)

dbSNP: rs1848610060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841173 SCV001360251 uncertain significance Cardiac arrhythmia 2019-01-28 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant replaces cysteine with tryptophan at codon 381 of the KCNQ1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
Invitae RCV001859162 SCV002277330 uncertain significance Long QT syndrome 2021-10-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 928367). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 381 of the KCNQ1 protein (p.Cys381Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan.

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