ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)

gnomAD frequency: 0.00003  dbSNP: rs104895491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000084131 SCV004047954 uncertain significance Blau syndrome criteria provided, single submitter clinical testing The stop gained variant c.2974C>T (p.Arg992Ter) in NOD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2974C>T variant is reported with allele frequency of 0.002% in gnomAD exomes and novel in 1000 Genomes. The nucleotide change c.2974C>T in NOD2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Uncertain Significance
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084131 SCV000116262 not provided Blau syndrome no assertion provided not provided

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