IFRD1 — 77 ClinVar variants
All ClinVar germline IFRD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
11 Benign · 5 Likely benign · 61 Uncertain significance
Full IFRD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IFRD1 p.Ala101Glu Uncertain significance Single submitter
- IFRD1 p.Ala25Thr Uncertain significance Single submitter
- IFRD1 p.Ala31Thr Uncertain significance Single submitter
- IFRD1 p.Ala445Thr Uncertain significance Single submitter
- IFRD1 p.Ala46Thr Uncertain significance Single submitter
- IFRD1 p.Ala64Gly Uncertain significance Single submitter
- IFRD1 p.Arg132Cys Uncertain significance Single submitter
- IFRD1 p.Arg143His Uncertain significance Single submitter
- IFRD1 p.Arg327Trp Uncertain significance Single submitter
- IFRD1 p.Arg362His Uncertain significance Single submitter
- IFRD1 p.Arg441Gln Uncertain significance Single submitter
- IFRD1 p.Asn217Ser Uncertain significance Single submitter
- IFRD1 p.Asp278Gly Uncertain significance Single submitter
- IFRD1 p.Asp279Asn Uncertain significance Single submitter
- IFRD1 p.Glu213Gly Uncertain significance Single submitter
- IFRD1 p.Glu301Lys Uncertain significance Single submitter
- IFRD1 p.Glu400Gly Uncertain significance Single submitter
- IFRD1 p.Gly384Glu Uncertain significance Single submitter
- IFRD1 p.His241Pro Uncertain significance Single submitter
- IFRD1 p.Ile130Val Uncertain significance Single submitter
- IFRD1 p.Ile165Met Uncertain significance Single submitter
- IFRD1 p.Ile218Val Uncertain significance Single submitter
- IFRD1 p.Ile300Leu Uncertain significance Single submitter
- IFRD1 p.Ile48Val Uncertain significance Single submitter
- IFRD1 p.Leu316Pro Uncertain significance Single submitter
- IFRD1 p.Leu319Ser Uncertain significance Single submitter
- IFRD1 p.Lys135Glu Uncertain significance Single submitter
- IFRD1 p.Lys136Glu Uncertain significance Single submitter
- IFRD1 p.Lys3Gln Uncertain significance Single submitter
- IFRD1 p.Lys416Arg Uncertain significance Single submitter
- IFRD1 p.Phe430Val Uncertain significance Single submitter
- IFRD1 p.Pro403Ser Uncertain significance Single submitter
- IFRD1 p.Ser14Arg Uncertain significance Single submitter
- IFRD1 p.Ser244Thr Uncertain significance Single submitter
- IFRD1 p.Ser244Tyr Uncertain significance Single submitter
- IFRD1 p.Ser276Phe Uncertain significance Single submitter
- IFRD1 p.Ser311Thr Uncertain significance Single submitter
- IFRD1 p.Ser311Tyr Uncertain significance Single submitter
- IFRD1 p.Thr206Ala Uncertain significance Single submitter
- IFRD1 p.Thr253Ile Uncertain significance Single submitter
- IFRD1 p.Thr30Ile Uncertain significance Single submitter
- IFRD1 p.Thr313Met Uncertain significance Single submitter
- IFRD1 p.Thr353Ile Uncertain significance Single submitter
- IFRD1 p.Thr411Ala Uncertain significance Single submitter
- IFRD1 p.Thr411Met Uncertain significance Single submitter
- IFRD1 p.Val151Gly Uncertain significance Single submitter
- IFRD1 p.Val405Ala Uncertain significance Single submitter
- IFRD1 p.Lys329Glu Uncertain significance No assertion criteria
Predictors split 11
The independent predictors disagree with each other — read with care.
- IFRD1 p.Arg419His Uncertain significance Single submitter
- IFRD1 p.Glu295Asp Uncertain significance Single submitter
- IFRD1 p.Glu421Lys Uncertain significance Single submitter
- IFRD1 p.Gly105Asp Uncertain significance Single submitter
- IFRD1 p.Gly18Cys Uncertain significance Single submitter
- IFRD1 p.Gly323Arg Uncertain significance Single submitter
- IFRD1 p.His326Asn Uncertain significance Single submitter
- IFRD1 p.Met124Thr Uncertain significance Single submitter
- IFRD1 p.Pro352Arg Uncertain significance Single submitter
- IFRD1 p.Pro404Leu Uncertain significance Single submitter
- IFRD1 p.Thr434Ala Uncertain significance Single submitter
All IFRD1 variants
Benign 11
- c.619-5A>G Multiple submitters
- p.Leu212Val Multiple submitters
- p.Leu71= Multiple submitters
- c.568-12T>A Single submitter
- p.Ala410= Single submitter
- p.Arg349= Single submitter
- p.Asp72= Single submitter
- p.Gly13= Single submitter
- p.Ser276= Single submitter
- p.Thr414= Single submitter
- c.568-4_568-3del No assertion criteria
Likely benign 5
- c.200-14A>C Single submitter
- c.568-10T>A Single submitter
- p.Ile172Val Single submitter Charcot-Marie-Tooth disease
- p.Ser95= Single submitter
- c.568-3dup No assertion criteria IFRD1-related disorder
Uncertain significance 61
- p.Ala101Glu Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala445Thr Single submitter ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala64Gly Single submitter ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg327Trp Single submitter ⚠
- p.Arg362His Single submitter ⚠
- p.Arg419His Single submitter ⚠
- p.Arg441Gln Single submitter ⚠
- p.Asn217Ser Single submitter ⚠
- p.Asp278Gly Single submitter ⚠
- p.Asp279Asn Single submitter ⚠
- p.Glu131Gln Single submitter
- p.Glu213Gly Single submitter ⚠
- p.Glu295Asp Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Glu400Gly Single submitter ⚠
- p.Glu421Lys Single submitter ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly18Cys Single submitter ⚠
- p.Gly323Arg Single submitter ⚠
- p.Gly384Glu Single submitter ⚠
- p.His241Pro Single submitter ⚠
- p.His326Asn Single submitter ⚠
- p.Ile130Val Single submitter ⚠
- p.Ile165Met Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Ile300Leu Single submitter ⚠
- p.Ile48Val Single submitter ⚠
- p.Leu292Phe Single submitter
- p.Leu316Pro Single submitter ⚠
- p.Leu319Ser Single submitter ⚠
- p.Lys135Glu Single submitter ⚠
- p.Lys136Glu Single submitter ⚠
- p.Lys3Gln Single submitter ⚠
- p.Lys416Arg Single submitter ⚠
- p.Met124Thr Single submitter ⚠
- p.Phe430Val Single submitter ⚠
- p.Pro352Arg Single submitter ⚠
- p.Pro403Ser Single submitter ⚠
- p.Pro404Leu Single submitter ⚠
- p.Ser14Arg Single submitter ⚠
- p.Ser244Thr Single submitter ⚠
- p.Ser244Tyr Single submitter ⚠
- p.Ser276Phe Single submitter ⚠
- p.Ser311Thr Single submitter ⚠
- p.Ser311Tyr Single submitter ⚠
- p.Thr206Ala Single submitter ⚠
- p.Thr253Ile Single submitter ⚠
- p.Thr30Ile Single submitter ⚠
- p.Thr313Met Single submitter ⚠
- p.Thr353Ile Single submitter ⚠
- p.Thr411Ala Single submitter ⚠
- p.Thr411Met Single submitter ⚠
- p.Thr434Ala Single submitter ⚠
- p.Val151Gly Single submitter ⚠
- p.Val405Ala Single submitter ⚠
- p.Lys329Glu No assertion criteria ⚠