ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp)

dbSNP: rs1848367520
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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 RCV001843206 SCV001350041 uncertain significance Cardiac arrhythmia 2019-04-02 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 643 of the KCNQ1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant 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 has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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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