ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1423del (p.Ala475fs)

dbSNP: rs2130944386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002007389 SCV002234442 pathogenic Benign neonatal seizures 2022-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala475Profs*4) in the KCNQ3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ3 are known to be pathogenic (PMID: 29383681, 29852413).

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