Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001043402 | SCV001207146 | pathogenic | Cryopyrin associated periodic syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | 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 NLRP3 protein function. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly309 amino acid residue in NLRP3. Other variant(s) that disrupt this residue have been observed in individuals with NLRP3-related conditions (PMID: 18063752, 21702021, 27191192), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects NLRP3 function (PMID: 27692610). ClinVar contains an entry for this variant (Variation ID: 97985). This variant is also known as CIAS1 p.G307V. This missense change has been observed in individuals with severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome (PMID: 16802372, 21702021). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 309 of the NLRP3 protein (p.Gly309Val). |
| Unité médicale des maladies autoinflammatoires, |
RCV000084247 | SCV000116383 | not provided | Familial cold autoinflammatory syndrome 1 | no assertion provided | not provided |