ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter)

dbSNP: rs1554627019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647885 SCV000769689 pathogenic Benign neonatal seizures 2022-12-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln360*) 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). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 538551).

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