Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793564 | SCV000932922 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2023-05-24 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 523 of the NLRP12 protein (p.Ala523Gly). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 640521). 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 NLRP12 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome Diagnostics Laboratory, |
RCV002263981 | SCV002542457 | uncertain significance | Autoinflammatory syndrome | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003222131 | SCV003918175 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000793564 | SCV004235611 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2023-06-08 | criteria provided, single submitter | clinical testing |