Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002221597 | SCV002499049 | likely pathogenic | Galloway-Mowat syndrome 4 | 2022-02-12 | criteria provided, single submitter | clinical testing | PM2, PM3, PM1, PP3 |
Invitae | RCV002549220 | SCV002945339 | uncertain significance | not provided | 2022-12-28 | 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. 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 expected to disrupt TP53RK protein function. ClinVar contains an entry for this variant (Variation ID: 812787). This missense change has been observed in individual(s) with TP53RK-related conditions (PMID: 32581362). This variant is present in population databases (rs553547069, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 243 of the TP53RK protein (p.Arg243Cys). |
Gene |
RCV002549220 | SCV004030686 | uncertain significance | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | Reported in the heterozygous state with another variant in the TP53RK gene in an individual undergoing whole genome sequencing for a rare disorder (Turro et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32581362) |
NIHR Bioresource Rare Diseases, |
RCV001003630 | SCV001162057 | likely pathogenic | Global developmental delay; Seizure | no assertion criteria provided | research |