Total submissions: 5
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, |
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, |
RCV002261241 | SCV002542675 | likely benign | Autoinflammatory syndrome | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
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, |
RCV003736944 | SCV004563344 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing |