PERCC1 — 7 ClinVar variants
All ClinVar germline PERCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 3 Likely benign · 1 Uncertain significance
Full PERCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 split 1
The independent predictors disagree with each other — read with care.
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PERCC1 p.Gly181Arg
Uncertain significance
Single submitter
diarrhea 11, malabsorptive, congenital
All PERCC1 variants
Pathogenic 1
- p.Tyr130Ter Single submitter diarrhea 11, malabsorptive, congenital
Likely pathogenic 2
- p.Tyr116Ter Multiple submitters diarrhea 11, malabsorptive, congenital
- p.Ser63Ter Single submitter diarrhea 11, malabsorptive, congenital
Likely benign 3
- p.Arg58Gln Single submitter
- p.Pro15= Single submitter
- p.Pro221= Single submitter
Uncertain significance 1
- p.Gly181Arg Single submitter diarrhea 11, malabsorptive, congenital ⚠