ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)

dbSNP: rs886039464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255361 SCV000322038 pathogenic not provided 2024-04-30 criteria provided, single submitter clinical testing 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 substitution is predicted to be within the intracellular loop between the S4 and S5 transmembrane segments of the first homologous domain; This variant is associated with the following publications: (PMID: 33057194, 33820833, 35982159, 32928894)
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001775106 SCV002012501 likely pathogenic Developmental and epileptic encephalopathy 6B 2021-09-08 criteria provided, single submitter research ACMG codes: PM1; PM2; PP2; PP3
Revvity Omics, Revvity RCV000255361 SCV003820713 uncertain significance not provided 2021-07-20 criteria provided, single submitter clinical testing

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