ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.*4G>A

dbSNP: rs1157661362
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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 RCV001842625 SCV001339481 uncertain significance Cardiac arrhythmia 2019-05-23 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 nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/31354 chromosomes 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.
PreventionGenetics, part of Exact Sciences RCV003898170 SCV004714533 likely benign KCNQ1-related condition 2021-03-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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