PDGFA — 32 ClinVar variants
All ClinVar germline PDGFA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 2 Likely benign · 29 Uncertain significance
Full PDGFA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDGFA c.580+620G>A Uncertain significance Single submitter
- PDGFA c.580+632C>T Uncertain significance Single submitter
- PDGFA c.580+644G>A Uncertain significance Single submitter
- PDGFA p.Arg148Cys Uncertain significance Single submitter
- PDGFA p.Arg189Trp Uncertain significance Single submitter
- PDGFA p.Arg78Trp Uncertain significance Single submitter
- PDGFA p.Gln37His Uncertain significance Single submitter
- PDGFA p.Glu24Asp Uncertain significance Single submitter
- PDGFA p.Leu48Met Uncertain significance Single submitter
- PDGFA p.Leu63Met Uncertain significance Single submitter
- PDGFA p.Pro186Leu Uncertain significance Single submitter
- PDGFA p.Pro81Arg Uncertain significance Single submitter
- PDGFA p.Ser114Tyr Uncertain significance Single submitter
- PDGFA p.Ser137Asn Uncertain significance Single submitter
- PDGFA p.Ser149Asn Uncertain significance Single submitter
- PDGFA p.Thr135Arg Uncertain significance Single submitter
- PDGFA p.Thr182Ile Uncertain significance Single submitter
- PDGFA p.Thr193Met Uncertain significance Single submitter
- PDGFA p.Thr61Ile Uncertain significance Single submitter
- PDGFA p.Val110Ile Uncertain significance Single submitter
- PDGFA p.Val150Ile Uncertain significance Single submitter
- PDGFA p.Val158Ile Uncertain significance Single submitter
- PDGFA p.Val68Phe Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PDGFA variants
Benign 1
- p.Arg170= Single submitter
Likely benign 2
- p.Ala178Thr Single submitter
- p.Arg42Gln Single submitter
Uncertain significance 29
- c.580+620G>A Single submitter ⚠
- c.580+632C>T Single submitter ⚠
- c.580+643C>T Single submitter ⚠
- c.580+644G>A Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg189Trp Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Gln37His Single submitter ⚠
- p.Glu24Asp Single submitter ⚠
- p.Ile119Val Single submitter
- p.Leu48Met Single submitter ⚠
- p.Leu63Met Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro81Arg Single submitter ⚠
- p.Ser114Tyr Single submitter ⚠
- p.Ser137Asn Single submitter ⚠
- p.Ser149Arg Single submitter ⚠
- p.Ser149Asn Single submitter ⚠
- p.Ser149Ile Single submitter ⚠
- p.Thr100Met Single submitter ⚠
- p.Thr135Arg Single submitter ⚠
- p.Thr182Ile Single submitter ⚠
- p.Thr193Met Single submitter ⚠
- p.Thr61Ile Single submitter ⚠
- p.Trp120Ter Single submitter Splenomegaly
- p.Val110Ile Single submitter ⚠
- p.Val150Ile Single submitter ⚠
- p.Val158Ile Single submitter ⚠
- p.Val68Phe Single submitter ⚠