Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000083904 | SCV002155746 | pathogenic | TNF receptor-associated periodic fever syndrome (TRAPS) | 2022-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys58 amino acid residue in TNFRSF1A. Other variant(s) that disrupt this residue have been observed in individuals with TNFRSF1A-related conditions (PMID: 11700162, 19541728, 20532935), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TNFRSF1A protein function. ClinVar contains an entry for this variant (Variation ID: 97651). This variant is also known as C29F. This missense change has been observed in individuals with clinical features of necrosis factor receptor-associated periodic syndrome (PMID: 11700162, 23965844; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 58 of the TNFRSF1A protein (p.Cys58Phe). |
| Unité médicale des maladies autoinflammatoires, |
RCV000083904 | SCV000116010 | not provided | TNF receptor-associated periodic fever syndrome (TRAPS) | no assertion provided | not provided |