ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3217G>A (p.Asp1073Asn)

gnomAD frequency: 0.00009  dbSNP: rs201389358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647755 SCV000769558 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325286 SCV002608031 uncertain significance Inborn genetic diseases 2020-06-15 criteria provided, single submitter clinical testing The p.D1062N variant (also known as c.3184G>A), located in coding exon 16 of the SCN9A gene, results from a G to A substitution at nucleotide position 3184. The aspartic acid at codon 1062 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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