ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter)

dbSNP: rs796052675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187966 SCV000241569 pathogenic not provided 2014-03-03 criteria provided, single submitter clinical testing p.Arg227Stop (CGA>TGA): c.679 C>T in exon 4 of the KCNQ3 gene (NM_004519.2) The Arg227Stop nonsense mutation in the KCNQ3 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This mutation has not been reported previously to our knowledge. The variant is found in INFANT-EPI panel(s).
Invitae RCV001225359 SCV001397639 pathogenic Benign neonatal seizures 2019-10-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ3 are known to be pathogenic (PMID: 29383681, 29852413). This variant has not been reported in the literature in individuals with KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 205961). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg227*) in the KCNQ3 gene. It is expected to result in an absent or disrupted protein product.

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