Submissions for variant NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)

gnomAD frequency: 0.00024  dbSNP: rs2076754

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002537241	SCV000947078	likely benign	Blau syndrome; Regional enteritis	2024-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001784430	SCV001278303	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263996	SCV002543026	uncertain significance	Autoinflammatory syndrome	2021-11-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003222135	SCV003917517	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOD2: BP4, BS1