ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) (rs121908913)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691966 SCV000819768 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-06-25 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 1299 of the SCN9A protein (p.Val1299Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with paroxysmal extreme pain disorder in families (PMID: 17145499, Invitae). ClinVar contains an entry for this variant (Variation ID: 6359). Experimental studies have shown that this missense change results in a protein channel with altered properties (PMID: 21115638, 18599537). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090456 SCV001246015 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
OMIM RCV000006731 SCV000026922 pathogenic Paroxysmal extreme pain disorder 2006-12-07 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.