ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)

dbSNP: rs1555720710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057345 SCV001221832 uncertain significance Brugada syndrome 5 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451237 SCV002738854 uncertain significance Cardiovascular phenotype 2018-05-11 criteria provided, single submitter clinical testing The p.E84K variant (also known as c.250G>A), located in coding exon 3 of the SCN1B gene, results from a G to A substitution at nucleotide position 250. The glutamic acid at codon 84 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.
Fulgent Genetics, Fulgent Genetics RCV002479349 SCV002792514 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2021-09-20 criteria provided, single submitter clinical testing

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