Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997000 | SCV001152054 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001858851 | SCV002198815 | uncertain significance | Familial cold autoinflammatory syndrome 2 | 2023-05-21 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 808637). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs149373778, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 867 of the NLRP12 protein (p.Arg867Cys). |
Genome Diagnostics Laboratory, |
RCV002264137 | SCV002542514 | uncertain significance | Autoinflammatory syndrome | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003259027 | SCV003947716 | uncertain significance | Inborn genetic diseases | 2023-06-12 | criteria provided, single submitter | clinical testing | The c.2599C>T (p.R867C) alteration is located in exon 7 (coding exon 7) of the NLRP12 gene. This alteration results from a C to T substitution at nucleotide position 2599, causing the arginine (R) at amino acid position 867 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |