ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3844G>T (p.Val1282Phe)

dbSNP: rs1184922927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266457 SCV001444632 uncertain significance Inborn genetic diseases 2018-04-26 criteria provided, single submitter clinical testing The p.V1282F variant (also known as c.3844G>T), located in coding exon 19 of the SCN2A gene, results from a G to T substitution at nucleotide position 3844. The valine at codon 1282 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005014319 SCV005650060 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 2024-04-25 criteria provided, single submitter clinical testing

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