ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val)

dbSNP: rs1554626549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656019 SCV000588295 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15
GeneReviews RCV001814169 SCV002061342 not provided Seizures, benign familial neonatal, 2 no assertion provided literature only Variant occurred in 2 sibs with rolandic epilepsy (no neonatal seizures), but was also present in their unaffected mother; a very rare allele, absent in the gnomad database of 250K alleles.

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