Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001359107 | SCV001554968 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2022-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 104 of the NLRP12 protein (p.Ser104Cys). This variant is present in population databases (rs369508681, gnomAD 0.004%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1051113). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. |
Genome Diagnostics Laboratory, |
RCV002264279 | SCV002542545 | uncertain significance | Autoinflammatory syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing |