ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)

gnomAD frequency: 0.00010  dbSNP: rs104895489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513877 SCV000951497 likely benign Blau syndrome; Regional enteritis 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505016 SCV002816463 uncertain significance Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 2022-04-08 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002505016 SCV003920296 uncertain significance Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 2021-11-22 criteria provided, single submitter clinical testing NOD2 NM_022162 exon 4 p.Pro727Leu (c.2180C>T): This variant has been reported in the literature in 1 individual with Crohn's disease, identified in cis with an additional truncating variant (Lappalainen 2008 PMID:17941079). This variant is present in 14/126450 European alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs104895489). This variant is present in ClinVar (Variation ID:97845). This variant amino acid leucine (Leu) is present in >10 species; this suggests that this variant may not impact the protein. Additional computational prediction tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084102 SCV000116233 not provided Blau syndrome no assertion provided not provided

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