ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)

gnomAD frequency: 0.00006  dbSNP: rs200374987
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535303 SCV000649291 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-11-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729429 SCV000857092 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765526 SCV000896840 uncertain significance Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000729429 SCV001715728 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000729429 SCV001999373 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002420489 SCV002721362 uncertain significance Inborn genetic diseases 2021-02-12 criteria provided, single submitter clinical testing The p.R658H variant (also known as c.1973G>A), located in coding exon 12 of the SCN9A gene, results from a G to A substitution at nucleotide position 1973. The arginine at codon 658 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of primary erythermalgia/small fiber neuropathy, and paroxysmal extreme pain disorder (PEPD); however, its contribution to the development of congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathy type II (HSAN2D) is uncertain.

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