ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro)

dbSNP: rs74315390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187885 SCV000241487 pathogenic not provided 2024-12-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); This substitution is predicted to be within the transmembrane segment S6; This variant is associated with the following publications: (PMID: 25959266, 29655203, 31832524, 31152295)
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003326126 SCV004032466 pathogenic Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2023-02-15 criteria provided, single submitter clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315319 SCV004015103 not provided Complex neurodevelopmental disorder no assertion provided literature only

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