ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1220_1221del (p.Ser407fs)

dbSNP: rs1826288852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041672 SCV001205298 pathogenic Benign neonatal seizures 2019-03-30 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 been observed to segregate with autosomal recessive epileptic encephalopathy in a family (PMID: 29852413). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser407Phefs*27) in the KCNQ3 gene. It is expected to result in an absent or disrupted protein product.

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