ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr)

dbSNP: rs104895473
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Total submissions: 3
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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, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000084091 SCV004030497 likely pathogenic Blau syndrome criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084091 SCV000116221 not provided Blau syndrome no assertion provided not provided

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