TP53RK — 98 ClinVar variants
All ClinVar germline TP53RK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Pathogenic · 4 Likely pathogenic · 7 Conflicting · 3 Benign · 3 Benign/Likely benign · 22 Likely benign · 56 Uncertain significance
Full TP53RK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TP53RK p.Arg243Cys
Conflicting
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Arg243Leu
Conflicting
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Tyr106Ser
Conflicting
Single submitter
Galloway-Mowat syndrome 4
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TP53RK p.Arg243His Uncertain significance Multiple submitters
-
TP53RK p.Val120Met
Uncertain significance
Multiple submitters
Galloway-Mowat syndrome 4
-
TP53RK p.Ala206Pro
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Ala43Val
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Ala71Gly
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Ala85Ser
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Arg152Gln
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Arg62His
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Arg80Gly
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
- TP53RK p.Arg90Cys Uncertain significance Single submitter
- TP53RK p.Asp195Asn Uncertain significance Single submitter
-
TP53RK p.Gln127Arg
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Glu84Asp
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Glu84Lys
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
- TP53RK p.Gly253Val Uncertain significance Single submitter
- TP53RK p.Gly42Val Uncertain significance Single submitter
- TP53RK p.His160Arg Uncertain significance Single submitter
-
TP53RK p.Ile182Val
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Leu169Phe
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Lys65Met
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Phe221Ile
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Pro15Ser
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Pro172Thr
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
- TP53RK p.Thr210Ile Uncertain significance Single submitter
- TP53RK p.Thr214Pro Uncertain significance Single submitter
- TP53RK p.Tyr106Cys Uncertain significance Single submitter
- TP53RK p.Val252Ala Uncertain significance Single submitter
-
TP53RK p.Val252Ile
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
Predictors split 20
The independent predictors disagree with each other — read with care.
- TP53RK p.Arg123Gln Benign/Likely benign Multiple submitters
-
TP53RK p.Leu200Val
Uncertain significance
Multiple submitters
Galloway-Mowat syndrome 4
-
TP53RK p.Lys230Thr
Uncertain significance
Multiple submitters
Galloway-Mowat syndrome 4
- TP53RK p.Ala71Pro Uncertain significance Single submitter
-
TP53RK p.Ala94Thr
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Arg46Ser
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Arg49Cys
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
- TP53RK p.Arg55Cys Uncertain significance Single submitter
- TP53RK p.Arg55Gly Uncertain significance Single submitter
- TP53RK p.Arg92Cys Uncertain significance Single submitter
- TP53RK p.Arg93Gly Uncertain significance Single submitter
- TP53RK p.Cys110Tyr Uncertain significance Single submitter
-
TP53RK p.Met113Val
Conflicting
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Met168Val
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Phe103Ser
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Phe188Leu
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Pro70Leu
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Ser119Pro
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Tyr112Cys
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
-
TP53RK p.Val252Phe
Uncertain significance
Single submitter
Galloway-Mowat syndrome 4
All TP53RK variants
Pathogenic 3
- p.Gly42Asp No assertion criteria Galloway-Mowat syndrome 4
- p.Lys60fs No assertion criteria Galloway-Mowat syndrome 4
- p.Thr81Arg No assertion criteria Galloway-Mowat syndrome 4
Likely pathogenic 4
- p.Leu174fs Single submitter Galloway-Mowat syndrome 4
- p.Lys65Gln Single submitter Galloway-Mowat syndrome 4
- p.Tyr201fs Single submitter Galloway-Mowat syndrome 4
- p.Tyr225Ter Single submitter Galloway-Mowat syndrome 4
Conflicting classifications of pathogenicity 7
- p.Arg243Cys Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg243Leu Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Met113Val Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Pro193fs Single submitter Galloway-Mowat syndrome 4
- p.Tyr106Ser Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Tyr112fs Single submitter TP53RK-related disorder
- p.Val104fs Single submitter Galloway-Mowat syndrome 4
Benign 3
- c.*46G>A Multiple submitters
- p.Ala4= Multiple submitters
- p.Thr135Ile Single submitter
Benign/Likely benign 3
- p.Arg123Gln Multiple submitters ⚠
- p.Thr129Ala Multiple submitters
- p.Thr145Ala Multiple submitters Galloway-Mowat syndrome 4
Likely benign 22
- p.Ala206= Multiple submitters
- p.Ala56Pro Multiple submitters Galloway-Mowat syndrome 4
- p.Arg86= Multiple submitters Galloway-Mowat syndrome 4
- p.Pro173= Multiple submitters Galloway-Mowat syndrome 4
- c.283+10G>A Single submitter
- c.283+20C>G Single submitter
- c.284-16del Single submitter
- c.284-8G>A Single submitter
- c.*17A>G Single submitter
- p.Ala10= Single submitter
- p.Arg90= Single submitter
- p.Gly253= Single submitter
- p.His154= Single submitter
- p.Leu163= Single submitter
- p.Leu200= Single submitter
- p.Pro193= Single submitter
- p.Pro99= Single submitter
- p.Thr81= Single submitter
- p.Tyr201= Single submitter
- p.Tyr225= Single submitter
- p.Val58Leu Single submitter
- p.Leu186= No assertion criteria TP53RK-related disorder
Uncertain significance 56
- p.Arg243His Multiple submitters ⚠
- p.Leu200Val Multiple submitters Galloway-Mowat syndrome 4 ⚠
- p.Lys230Thr Multiple submitters Galloway-Mowat syndrome 4 ⚠
- p.Val120Met Multiple submitters Galloway-Mowat syndrome 4 ⚠
- c.283+3_283+7del Single submitter Galloway-Mowat syndrome 4
- c.283+6G>T Single submitter Galloway-Mowat syndrome 4
- p.Ala206Pro Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Ala43Val Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Ala71Gly Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Ala71Pro Single submitter ⚠
- p.Ala85Ser Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Ala94Thr Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg152Gln Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg152Ter Single submitter
- p.Arg46Ser Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg49Cys Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Arg62= Single submitter Galloway-Mowat syndrome 4
- p.Arg62His Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg80Gly Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Arg90Cys Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Arg93Cys Single submitter
- p.Arg93Gly Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Cys110Ter Single submitter
- p.Cys110Tyr Single submitter ⚠
- p.Gln127Arg Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Glu84Asp Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Glu84Lys Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Gly253Val Single submitter ⚠
- p.Gly42Val Single submitter ⚠
- p.His154Pro Single submitter
- p.His160Arg Single submitter ⚠
- p.Ile182Val Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Leu169Phe Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Lys144delinsArgValSerProThrTer Single submitter
- p.Lys65Met Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Met168Val Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Phe103Ser Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Phe188Leu Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Phe221Ile Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Pro15Ser Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Pro172= Single submitter Galloway-Mowat syndrome 4
- p.Pro172Thr Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Pro70Leu Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Ser119Pro Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Thr210Ile Single submitter ⚠
- p.Thr214Pro Single submitter ⚠
- p.Tyr106Cys Single submitter ⚠
- p.Tyr112Cys Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Val198Ile Single submitter Galloway-Mowat syndrome 4
- p.Val252Ala Single submitter ⚠
- p.Val252Ile Single submitter Galloway-Mowat syndrome 4 ⚠
- p.Val252Phe Single submitter Galloway-Mowat syndrome 4 ⚠