ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)

gnomAD frequency: 0.00131  dbSNP: rs114664276
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002548271 SCV001106686 likely benign Blau syndrome; Regional enteritis 2024-01-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280997 SCV001468390 uncertain significance Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 2019-11-22 criteria provided, single submitter clinical testing NOD2 NM_0022162.2 exon 4 p.Arg684Gln (c.2051G>A): This variant has not been reported in the literature but is present in 0.3% (93/24762) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-50745873-G-A?dataset=gnomad_r2_1). This variant amino acid Glutamine (Glu) is present in >30 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261241 SCV002542675 likely benign Autoinflammatory syndrome 2021-04-08 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224498 SCV003920294 uncertain significance Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 2021-03-30 criteria provided, single submitter clinical testing NOD2 NM_0022162.2 exon 4 p.Arg684Gln (c.2051G>A): This variant has not been reported in the literature but is present in 0.3% (93/24762) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-50745873-G-A?dataset=gnomad_r2_1). This variant amino acid Glutamine (Glu) is present in >30 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736944 SCV004563344 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing

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