ClinVar Miner

Submissions for variant NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)

gnomAD frequency: 0.00002  dbSNP: rs553547069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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).
GeneDx 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, University of Cambridge RCV001003630 SCV001162057 likely pathogenic Global developmental delay; Seizure no assertion criteria provided research

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