ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1685dup (p.Tyr563fs)

dbSNP: rs1563767053
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685942 SCV000813443 pathogenic Benign neonatal seizures 2023-03-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 566195). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr563Valfs*40) 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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