ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.809G>A (p.Trp270Ter)

dbSNP: rs796052634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187878 SCV000241478 pathogenic not provided 2014-05-08 criteria provided, single submitter clinical testing Trp270Stop (TGG>TAG): c.809 G>A in exon 5 of the KCNQ2 gene (NM_172107.2) The W270X nonsense mutation in the KCNQ2 gene is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated decay. A nearby nonsense mutation, W269X, is reported in association with benign infantile epilepsy. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a KCNQ2-related disorder. The variant is found in EPILEPSY panel(s).

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