VEGFA — 87 ClinVar variants
All ClinVar germline VEGFA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
2 Likely pathogenic · 7 Benign · 18 Likely benign · 60 Uncertain significance
Full VEGFA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- VEGFA c.1034+36G>C Uncertain significance Single submitter
- VEGFA c.1034+42C>T Uncertain significance Single submitter
- VEGFA p.Arg316Gly Uncertain significance Single submitter
- VEGFA p.Arg318Ser Uncertain significance Single submitter
- VEGFA p.Glu211Gly Uncertain significance Single submitter
- VEGFA p.His189Arg Uncertain significance Single submitter
- VEGFA p.His199Tyr Uncertain significance Single submitter
- VEGFA p.Ile235Val Uncertain significance Single submitter
-
VEGFA p.Lys321Arg
Uncertain significance
Single submitter
microvascular complications of diabetes, susceptibility to, 1
- VEGFA p.Lys370Arg Uncertain significance Single submitter
- VEGFA p.Pro346Ser Uncertain significance Single submitter
- VEGFA p.Pro362Leu Uncertain significance Single submitter
- VEGFA p.Tyr231Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All VEGFA variants
Likely pathogenic 2
- p.Ala193fs Single submitter VEGFA-related disorder
- p.Thr8fs Single submitter
Benign 7
- c.1034+103T>C Single submitter
- c.658+290G>C Single submitter
- c.659-99G>A Single submitter
- c.855+175C>T Single submitter
- c.856-28C>T Single submitter
- c.-94C>G Single submitter microvascular complications of diabetes, susceptibility to, 1
- p.Glu75= Single submitter
Likely benign 18
- p.Asn371= Multiple submitters
- c.1034+7T>C Single submitter
- p.Ala113Ser Single submitter
- p.Ala74= Single submitter
- p.Ala79Thr Single submitter
- p.Ala80Gly Single submitter
- p.Arg145Pro Single submitter
- p.Arg394= Single submitter
- p.Gln108Arg Single submitter
- p.Glu43= Single submitter
- p.Glu98= Single submitter
- p.Gly144Ala Single submitter
- p.Leu196= Single submitter
- p.Phe64Ser Single submitter
- p.Pro92Ser Single submitter
- p.Ser344= Single submitter
- p.Glu96= No assertion criteria VEGFA-related disorder
- p.Tyr245= No assertion criteria VEGFA-related disorder
Uncertain significance 60
- c.1034+36G>C Single submitter ⚠
- c.1034+42C>T Single submitter ⚠
- p.Ala123Glu Single submitter
- p.Ala133Glu Single submitter
- p.Ala79Asp Single submitter
- p.Arg114Pro Single submitter
- p.Arg171Gly Single submitter
- p.Arg30His Single submitter
- p.Arg316Gly Single submitter ⚠
- p.Arg318Ser Single submitter ⚠
- p.Arg325Ter Single submitter
- p.Arg335Leu Single submitter
- p.Arg335Ser Single submitter
- p.Arg353Gln Single submitter
- p.Arg375His Single submitter
- p.Arg63Leu Single submitter
- p.Asp3fs Single submitter
- p.Cys367Ser Single submitter
- p.Glu211Gly Single submitter ⚠
- p.Glu385Lys Single submitter ⚠
- p.Gly112Val Single submitter
- p.Gly117Ala Single submitter
- p.Gly33Val Single submitter microvascular complications of diabetes, susceptibility to, 1
- p.Gly72Trp Single submitter
- p.Gly95Trp Single submitter
- p.His189Arg Single submitter ⚠
- p.His189Leu Single submitter
- p.His199Tyr Single submitter ⚠
- p.His200Leu Single submitter
- p.Ile235Val Single submitter ⚠
- p.Leu185Pro Single submitter
- p.Lys321Arg Single submitter microvascular complications of diabetes, susceptibility to, 1 ⚠
- p.Lys329Arg Single submitter
- p.Lys329Glu Single submitter
- p.Lys370Arg Single submitter ⚠
- p.Met284Ile Single submitter
- p.Pro131Leu Single submitter
- p.Pro160Arg Single submitter
- p.Pro259Ser Single submitter
- p.Pro346Ser Single submitter ⚠
- p.Pro362Leu Single submitter ⚠
- p.Pro393Arg Single submitter ⚠
- p.Ser13Ile Single submitter
- p.Ser157Arg Single submitter
- p.Trp119Arg Single submitter
- p.Tyr231Ser Single submitter ⚠
- p.Val220Ala Single submitter microvascular complications of diabetes, susceptibility to, 1
- p.Ala123fs No assertion criteria prostate cancer, hereditary, 1
- p.Ala135Pro No assertion criteria prostate cancer, hereditary, 1
- p.Ala169Glu No assertion criteria prostate cancer, hereditary, 1
- p.Arg22Trp No assertion criteria
- p.Gln108fs No assertion criteria prostate cancer, hereditary, 1
- p.Glu385Gly No assertion criteria VEGFA-related disorder
- p.Gly117fs No assertion criteria prostate cancer, hereditary, 1
- p.Leu111fs No assertion criteria prostate cancer, hereditary, 1
- p.Pro107fs No assertion criteria prostate cancer, hereditary, 1
- p.Pro116Ala No assertion criteria prostate cancer, hereditary, 1
- p.Ser143Lys No assertion criteria VEGFA-related disorder
- p.Ser164fs No assertion criteria prostate cancer, hereditary, 1
- p.Trp109fs No assertion criteria prostate cancer, hereditary, 1