Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513872 | SCV000933471 | pathogenic | Blau syndrome; Regional enteritis | 2020-08-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change leads to increased NF-kB activity (PMID: 15459013, 28130683, 25093298). This variant has been observed to be de novo in an individual affected with Blau syndrome (PMID: 25619344). In addition, it  has been observed in several individuals with a diagnosis or clinical features of Blau syndrome (PMID: 15459013, 28130683, 25416713, 28639104). ClinVar contains an entry for this variant (Variation ID: 97834). ClinVar contains an entry for this variant (Variation ID: 97834). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 513 of the NOD2 protein (p.Met513Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. |
Kasturba Medical College, |
RCV000084091 | SCV004030497 | likely pathogenic | Blau syndrome | criteria provided, single submitter | clinical testing | ||
Unité médicale des maladies autoinflammatoires, |
RCV000084091 | SCV000116221 | not provided | Blau syndrome | no assertion provided | not provided |