ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) (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 familial neonatal seizures 2019-11-01 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). Loss-of-function variants in KCNQ3 are known to be pathogenic (PMID: 29383681, 29852413). For these reasons, this variant has been classified as Pathogenic.

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