SSU72 — 12 ClinVar variants
All ClinVar germline SSU72 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
12 Uncertain significance
Full SSU72 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SSU72 p.Arg34Gln Uncertain significance Single submitter
- SSU72 p.Asn66Ser Uncertain significance Single submitter
- SSU72 p.Asp56Tyr Uncertain significance Single submitter
- SSU72 p.Gln132Glu Uncertain significance Single submitter
- SSU72 p.Gln160Lys Uncertain significance Single submitter
- SSU72 p.Glu113Gly Uncertain significance Single submitter
- SSU72 p.Leu104Val Uncertain significance Single submitter
- SSU72 p.Thr165Met Uncertain significance Single submitter
- SSU72 p.Thr186Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All SSU72 variants
Uncertain significance 12
- c.80+2451_80+2500del Single submitter autosomal recessive osteopetrosis 4
- p.Ala148Ser Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asp56Tyr Single submitter ⚠
- p.Gln132Glu Single submitter ⚠
- p.Gln160Lys Single submitter ⚠
- p.Glu113Gly Single submitter ⚠
- p.Leu104Val Single submitter ⚠
- p.Thr165Met Single submitter ⚠
- p.Thr186Ser Single submitter ⚠