ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.*6G>A

dbSNP: rs1349244002
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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 RCV001842724 SCV001342639 uncertain significance Cardiac arrhythmia 2019-06-19 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the KCNQ1 gene. To our knowledge, functional assays have not been performed for this variant. Computational splicing tools suggest that this variant may not impact RNA splicing. This variant has not 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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