Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512849 | SCV003524824 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2022-09-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SCN9A function (PMID: 15385606, 16702558, 21115638). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 6349). This missense change has been observed in individual(s) with autosomal dominant primary erythromelalgia (PMID: 14985375). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 858 of the SCN9A protein (p.Leu858His). |
OMIM | RCV000006721 | SCV000026912 | pathogenic | Primary erythromelalgia | 2006-05-23 | no assertion criteria provided | literature only | |
Gene |
RCV000006721 | SCV000040966 | not provided | Primary erythromelalgia | no assertion provided | literature only |