Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002545524 | SCV002307269 | uncertain significance | Blau syndrome; Regional enteritis | 2021-10-16 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. This variant is present in population databases (rs773580517, ExAC 0.01%). This sequence change replaces threonine with asparagine at codon 509 of the NOD2 protein (p.Thr509Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. |
| Genome Diagnostics Laboratory, |
RCV002261442 | SCV002542660 | uncertain significance | Autoinflammatory syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004046236 | SCV004990132 | uncertain significance | Inborn genetic diseases | 2023-09-26 | criteria provided, single submitter | clinical testing | The c.1526C>A (p.T509N) alteration is located in exon 4 (coding exon 4) of the NOD2 gene. This alteration results from a C to A substitution at nucleotide position 1526, causing the threonine (T) at amino acid position 509 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |