RAP1A — 37 ClinVar variants
All ClinVar germline RAP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
16 Benign · 13 Likely benign · 8 Uncertain significance
Full RAP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAP1A p.Arg2His Uncertain significance Single submitter
- RAP1A p.Cys139Tyr Uncertain significance Single submitter
- RAP1A p.Met111Val Uncertain significance Single submitter
- RAP1A p.Thr106Met Uncertain significance Single submitter
- RAP1A p.Thr85Ile Uncertain significance Single submitter
- RAP1A p.Thr89Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All RAP1A variants
Benign 16
- c.126+185A>G Multiple submitters
- c.57+176C>T Multiple submitters
- c.57+29T>A Multiple submitters
- c.57+45G>T Multiple submitters
- c.58-48A>T Multiple submitters
- c.*29+16C>T Multiple submitters
- c.*29+97C>G Multiple submitters
- c.127-11dup Single submitter
- c.127-212C>T Single submitter
- c.183+6G>A Single submitter
- c.325-179del Single submitter
- c.325-179dup Single submitter
- c.58-130_58-129insATATTA Single submitter
- c.-27-158G>A Single submitter
- c.-27-215T>C Single submitter
- c.*29+226dup Single submitter
Likely benign 13
- p.Ala142= Multiple submitters
- p.Phe23= Multiple submitters
- c.127-10del Single submitter
- c.127-10G>T Single submitter
- c.127-9C>G Single submitter
- c.325-11del Single submitter
- c.468+14G>A Single submitter
- c.58-8del Single submitter
- c.58-9T>C Single submitter
- p.Leu184= Single submitter
- p.Leu93= Single submitter
- p.Thr89= Single submitter
- p.Val46= Single submitter
Uncertain significance 8
- p.Arg2His Single submitter ⚠
- p.Asp47Glu Single submitter ⚠
- p.Cys139Tyr Single submitter ⚠
- p.Met111Val Single submitter ⚠
- p.Thr106Met Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Thr89Ala Single submitter ⚠
- p.Tyr32Ter Single submitter