Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000084106 | SCV001276795 | benign | Blau syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
| Illumina Laboratory Services, |
RCV001781419 | SCV001276796 | uncertain significance | Inflammatory bowel disease 1 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Invitae | RCV002513878 | SCV002249898 | uncertain significance | Blau syndrome; Regional enteritis | 2023-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 791 of the NOD2 protein (p.Arg791Trp). This variant is present in population databases (rs104895484, gnomAD 0.02%). This missense change has been observed in individual(s) with inflammatory bowel disease (PMID: 16485124). This variant is also known as p.R791W in the CARD15 gene. ClinVar contains an entry for this variant (Variation ID: 97849). 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 not expected to disrupt NOD2 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. |
| Unité médicale des maladies autoinflammatoires, |
RCV000084106 | SCV000116237 | not provided | Blau syndrome | no assertion provided | not provided |