ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter)

dbSNP: rs1064794001
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486931 SCV000567553 pathogenic not provided 2015-07-29 criteria provided, single submitter clinical testing The G402X nonsense variant in the KCNQ2 gene is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating itis not a common benign variant in these populations. Although this variant has not been reported previouslyto our knowledge, we consider it to be pathogenic.

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