ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.1195G>A (p.Val399Met)

dbSNP: rs1064794738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483386 SCV000569839 pathogenic not provided 2022-05-26 criteria provided, single submitter clinical testing Reported in an individual with multiple seizure types beginning at 3 years of age (Sachdev et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32533790, 28806589, 33802230)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723323 SCV000854717 likely pathogenic Developmental and epileptic encephalopathy, 32 2018-06-26 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001824800 SCV002075159 not provided KCN2A-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 03-21-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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