MRPS28 — 27 ClinVar variants
All ClinVar germline MRPS28 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Pathogenic · 2 Benign · 5 Likely benign · 19 Uncertain significance
Full MRPS28 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 lean, ClinVar uncertain 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MRPS28 p.Cys5Tyr Uncertain significance Single submitter
- MRPS28 p.Glu174Asp Uncertain significance Single submitter
- MRPS28 p.Gly171Glu Uncertain significance Single submitter
- MRPS28 p.Ile104Val Uncertain significance Single submitter
- MRPS28 p.Ile107Val Uncertain significance Single submitter
- MRPS28 p.Ile114Met Uncertain significance Single submitter
- MRPS28 p.Lys176Thr Uncertain significance Single submitter
- MRPS28 p.Lys181Glu Uncertain significance Single submitter
- MRPS28 p.Lys75Glu Uncertain significance Single submitter
- MRPS28 p.Val140Ala Uncertain significance Single submitter
- MRPS28 p.Val162Glu Uncertain significance Single submitter
-
MRPS28 p.His106Pro
Uncertain significance
No assertion criteria
MRPS28-related disorder
Predictors split 7
The independent predictors disagree with each other — read with care.
- MRPS28 p.Arg141Gln Uncertain significance Single submitter
- MRPS28 p.Arg141Trp Uncertain significance Single submitter
- MRPS28 p.Arg143Gln Uncertain significance Single submitter
- MRPS28 p.Asn166Ile Uncertain significance Single submitter
- MRPS28 p.Asp130His Uncertain significance Single submitter
- MRPS28 p.Ser82Cys Uncertain significance Single submitter
-
MRPS28 p.Arg103Trp
Benign
No assertion criteria
MRPS28-related disorder
All MRPS28 variants
Pathogenic 1
- p.Lys119Arg No assertion criteria combined oxidative phosphorylation deficiency 47
Benign 2
- p.Arg103Trp No assertion criteria MRPS28-related disorder ⚠
- p.Leu89Phe No assertion criteria MRPS28-related disorder
Likely benign 5
- p.Leu99= Single submitter
- p.Val162Ile Single submitter
- c.214-8A>G No assertion criteria MRPS28-related disorder
- p.Asp159= No assertion criteria MRPS28-related disorder
- p.Val77Met No assertion criteria MRPS28-related disorder
Uncertain significance 19
- p.Arg141Gln Single submitter ⚠
- p.Arg141Trp Single submitter ⚠
- p.Arg143Gln Single submitter ⚠
- p.Asn166Ile Single submitter ⚠
- p.Asp130His Single submitter ⚠
- p.Cys5Tyr Single submitter ⚠
- p.Glu174Asp Single submitter ⚠
- p.Gly171Glu Single submitter ⚠
- p.His121Arg Single submitter
- p.Ile104Val Single submitter ⚠
- p.Ile107Val Single submitter ⚠
- p.Ile114Met Single submitter ⚠
- p.Lys176Thr Single submitter ⚠
- p.Lys181Glu Single submitter ⚠
- p.Lys75Glu Single submitter ⚠
- p.Ser82Cys Single submitter ⚠
- p.Val140Ala Single submitter ⚠
- p.Val162Glu Single submitter ⚠
- p.His106Pro No assertion criteria MRPS28-related disorder ⚠