ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln)

gnomAD frequency: 0.00006  dbSNP: rs200821646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456843 SCV000548362 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411460 SCV002716212 uncertain significance Inborn genetic diseases 2019-12-28 criteria provided, single submitter clinical testing The p.R597Q variant (also known as c.1790G>A), located in coding exon 11 of the SCN9A gene, results from a G to A substitution at nucleotide position 1790. The arginine at codon 597 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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