Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001928911 | SCV002200253 | uncertain significance | Inflammatory bowel disease 25 | 2023-07-16 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 29 of the IL10RB protein (p.Met29Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1423543). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IL10RB protein function. 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. |
| Ambry Genetics | RCV002558492 | SCV003616455 | uncertain significance | Inborn genetic diseases | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.85A>G (p.M29V) alteration is located in exon 2 (coding exon 2) of the IL10RB gene. This alteration results from a A to G substitution at nucleotide position 85, causing the methionine (M) at amino acid position 29 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |