AIF1 — 19 ClinVar variants
All ClinVar germline AIF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
4 Likely benign · 15 Uncertain significance
Full AIF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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.
- AIF1 p.Asp64His Uncertain significance Single submitter
- AIF1 p.Ile90Thr Uncertain significance Single submitter
- AIF1 p.Leu86Ile Uncertain significance Single submitter
- AIF1 p.Lys87Arg Uncertain significance Single submitter
- AIF1 p.Pro104Ala Uncertain significance Single submitter
- AIF1 p.Ser115Thr Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All AIF1 variants
Likely benign 4
- c.196+57G>A Single submitter
- c.197-12C>T Single submitter
- c.197-64C>T Single submitter
- p.Arg72Gln Single submitter
Uncertain significance 15
- c.196+21G>C Single submitter
- c.197-34C>T Single submitter
- c.197-36C>T Single submitter
- c.197-42G>C Single submitter
- c.197-45A>G Single submitter
- c.197-55G>C Single submitter
- c.197-75G>A Single submitter
- p.Asp64His Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Ile90Thr Single submitter ⚠
- p.Leu86Ile Single submitter ⚠
- p.Lys87Arg Single submitter ⚠
- p.Phe57Leu Single submitter ⚠
- p.Pro104Ala Single submitter ⚠
- p.Ser115Thr Single submitter ⚠