ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1286G>A (p.Arg429His)

gnomAD frequency: 0.00013  dbSNP: rs367556839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591420 SCV000704080 uncertain significance not provided 2017-01-08 criteria provided, single submitter clinical testing
Invitae RCV000706997 SCV000836073 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384296 SCV002690148 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The p.R429H variant (also known as c.1286G>A), located in coding exon 9 of the SCN9A gene, results from a G to A substitution at nucleotide position 1286. The arginine at codon 429 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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