Total submissions: 6
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 |
RCV000729429 | SCV000857092 | uncertain significance | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
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, |
RCV000729429 | SCV001715728 | uncertain significance | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
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. |