ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)

dbSNP: rs587777721
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000144154 SCV000297794 pathogenic Developmental and epileptic encephalopathy, 13 2016-07-14 criteria provided, single submitter research
GeneDx RCV000522954 SCV000616869 pathogenic not provided 2021-10-22 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect resulting in channel hyperactivity (Wagnon et al., 2016); 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; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 31692161, 25785782, 24194747, 26029160, 23020937, 24888894, 25568300, 25046240, 28554332, 29588952, 30171078, 28191890, 29655203, 32090326, 31175295, 33004838, 33442870, 26900580)
Invitae RCV000636307 SCV000757746 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266283 SCV001444456 pathogenic Inborn genetic diseases 2019-07-18 criteria provided, single submitter clinical testing
OMIM RCV000144154 SCV000189234 pathogenic Developmental and epileptic encephalopathy, 13 2014-07-01 no assertion criteria provided literature only
GeneReviews RCV000144154 SCV000298208 not provided Developmental and epileptic encephalopathy, 13 no assertion provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678845 SCV000805036 uncertain significance developmental delay with seizures 2017-08-25 no assertion criteria provided clinical testing

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