Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001037347 | SCV001200757 | uncertain significance | Immunodeficiency 35 | 2022-11-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs759137101, gnomAD 0.05%). 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. 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 TYK2 protein function. ClinVar contains an entry for this variant (Variation ID: 836265). This variant has not been reported in the literature in individuals affected with TYK2-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 607 of the TYK2 protein (p.Arg607His). |
Fulgent Genetics, |
RCV001037347 | SCV002787311 | uncertain significance | Immunodeficiency 35 | 2021-07-23 | criteria provided, single submitter | clinical testing |