FDFT1 — 187 ClinVar variants
All ClinVar germline FDFT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
3 Likely pathogenic · 2 Conflicting · 13 Benign · 4 Benign/Likely benign · 60 Likely benign · 105 Uncertain significance
Full FDFT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FDFT1 p.Ala333Ser Uncertain significance Multiple submitters
- FDFT1 p.Asn265Ser Uncertain significance Multiple submitters
- FDFT1 p.Gly151Asp Uncertain significance Multiple submitters
- FDFT1 p.Ile252Thr Uncertain significance Multiple submitters
- FDFT1 p.Phe210Leu Uncertain significance Multiple submitters
- FDFT1 p.Ser102Cys Uncertain significance Multiple submitters
- FDFT1 p.Ala144Thr Uncertain significance Single submitter
- FDFT1 p.Ala189Val Uncertain significance Single submitter
- FDFT1 p.Ala247Val Uncertain significance Single submitter
- FDFT1 p.Ala60Ser Uncertain significance Single submitter
- FDFT1 p.Ala68Pro Uncertain significance Single submitter
- FDFT1 p.Arg203Cys Uncertain significance Single submitter
- FDFT1 p.Arg203Gly Uncertain significance Single submitter
- FDFT1 p.Arg203His Uncertain significance Single submitter
- FDFT1 p.Arg367Gln Uncertain significance Single submitter
- FDFT1 p.Arg379Gln Uncertain significance Single submitter
- FDFT1 p.Arg52Cys Uncertain significance Single submitter
- FDFT1 p.Asn205Lys Uncertain significance Single submitter
- FDFT1 p.Asn373Ser Uncertain significance Single submitter
- FDFT1 p.Asn48Ser Uncertain significance Single submitter
- FDFT1 p.Asn99Asp Uncertain significance Single submitter
- FDFT1 p.Asp145Glu Uncertain significance Single submitter
- FDFT1 p.Asp253Tyr Uncertain significance Single submitter
- FDFT1 p.Asp32Glu Uncertain significance Single submitter
- FDFT1 p.Asp351Glu Uncertain significance Single submitter
- FDFT1 p.Asp353Tyr Uncertain significance Single submitter
- FDFT1 p.Asp410Glu Uncertain significance Single submitter
- FDFT1 p.Asp62Glu Uncertain significance Single submitter
- FDFT1 p.Cys43Trp Uncertain significance Single submitter
- FDFT1 p.Gln120His Uncertain significance Single submitter
-
FDFT1 p.Gln224Glu
Uncertain significance
Single submitter
squalene synthase deficiency
- FDFT1 p.Gln257Leu Uncertain significance Single submitter
- FDFT1 p.Gln307Arg Uncertain significance Single submitter
- FDFT1 p.Gln307Lys Uncertain significance Single submitter
- FDFT1 p.Gln369His Uncertain significance Single submitter
- FDFT1 p.Glu167Asp Uncertain significance Single submitter
- FDFT1 p.Glu344Gln Uncertain significance Single submitter
- FDFT1 p.Glu91Asp Uncertain significance Single submitter
-
FDFT1 p.Gly63Glu
Uncertain significance
Single submitter
squalene synthase deficiency
- FDFT1 p.His173Gln Uncertain significance Single submitter
- FDFT1 p.His381Gln Uncertain significance Single submitter
- FDFT1 p.His381Pro Uncertain significance Single submitter
- FDFT1 p.His417Asp Uncertain significance Single submitter
- FDFT1 p.His417Tyr Uncertain significance Single submitter
- FDFT1 p.His98Gln Uncertain significance Single submitter
- FDFT1 p.Ile270Met Uncertain significance Single submitter
- FDFT1 p.Ile270Phe Uncertain significance Single submitter
- FDFT1 p.Ile362Thr Uncertain significance Single submitter
- FDFT1 p.Ile385Ser Uncertain significance Single submitter
- FDFT1 p.Ile385Val Uncertain significance Single submitter
- FDFT1 p.Leu371Val Uncertain significance Single submitter
-
FDFT1 p.Leu7Ile
Uncertain significance
Single submitter
squalene synthase deficiency
- FDFT1 p.Leu82Val Uncertain significance Single submitter
- FDFT1 p.Met31Ile Uncertain significance Single submitter
- FDFT1 p.Met331Ile Uncertain significance Single submitter
- FDFT1 p.Met391Val Uncertain significance Single submitter
- FDFT1 p.Phe103Cys Uncertain significance Single submitter
- FDFT1 p.Phe132Leu Uncertain significance Single submitter
- FDFT1 p.Pro107Ser Uncertain significance Single submitter
- FDFT1 p.Pro332Ala Uncertain significance Single submitter
- FDFT1 p.Ser129Tyr Uncertain significance Single submitter
- FDFT1 p.Ser237Gly Uncertain significance Single submitter
- FDFT1 p.Ser355Phe Uncertain significance Single submitter
- FDFT1 p.Ser357Arg Uncertain significance Single submitter
- FDFT1 p.Ser39Thr Uncertain significance Single submitter
- FDFT1 p.Thr127Met Uncertain significance Single submitter
- FDFT1 p.Thr163Pro Uncertain significance Single submitter
- FDFT1 p.Thr402Ile Uncertain significance Single submitter
- FDFT1 p.Tyr239Asn Uncertain significance Single submitter
- FDFT1 p.Tyr382Asn Uncertain significance Single submitter
- FDFT1 p.Tyr411Cys Uncertain significance Single submitter
- FDFT1 p.Val197Ile Uncertain significance Single submitter
- FDFT1 p.Val27Met Uncertain significance Single submitter
- FDFT1 p.Asn205His Uncertain significance No assertion criteria
- FDFT1 p.Ser37Asn Uncertain significance No assertion criteria
- FDFT1 p.Tyr44Ser Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
- FDFT1 p.Arg185Cys Uncertain significance Single submitter
- FDFT1 p.Asn305Ser Uncertain significance Single submitter
- FDFT1 p.Asp245His Uncertain significance Single submitter
- FDFT1 p.Cys147Gly Uncertain significance Single submitter
- FDFT1 p.His101Asp Uncertain significance Single submitter
- FDFT1 p.Ile362Asn Uncertain significance Single submitter
- FDFT1 p.Leu122Val Uncertain significance Single submitter
- FDFT1 p.Leu262Val Uncertain significance Single submitter
- FDFT1 p.Met207Val Uncertain significance Single submitter
- FDFT1 p.Met325Ile Uncertain significance Single submitter
- FDFT1 p.Pro249Arg Uncertain significance Single submitter
- FDFT1 p.Pro249Leu Uncertain significance Single submitter
- FDFT1 p.Pro95Arg Uncertain significance Single submitter
- FDFT1 p.Ser352Pro Uncertain significance Single submitter
- FDFT1 p.Tyr220Cys Uncertain significance Single submitter
- FDFT1 p.Tyr341His Uncertain significance Single submitter
All FDFT1 variants
Likely pathogenic 3
- c.880-24_880-23delinsAG Single submitter squalene synthase deficiency
- p.Leu300Ter Single submitter squalene synthase deficiency
- p.Trp231Ter Single submitter squalene synthase deficiency
Conflicting classifications of pathogenicity 2
- c.100-232G>C Single submitter
- p.Thr368Met Single submitter ⚠
Benign 13
- c.100-84TCCCAC[5] Multiple submitters
- c.1033-25T>C Multiple submitters squalene synthase deficiency
- c.879+9G>C Multiple submitters squalene synthase deficiency
- p.Gln399= Multiple submitters
- p.Leu211= Multiple submitters squalene synthase deficiency
- p.Leu324= Multiple submitters squalene synthase deficiency
- p.Leu61= Multiple submitters
- c.100-145C>G No assertion criteria FDFT1-related disorder
- c.100-498C>T No assertion criteria FDFT1-related disorder
- c.100-84TCCCAC[4] No assertion criteria FDFT1-related disorder
- p.Asn67= No assertion criteria FDFT1-related disorder
- p.His417Gln No assertion criteria FDFT1-related disorder
- p.Ser356Cys No assertion criteria FDFT1-related disorder
Benign/Likely benign 4
- c.100-84TCCCAC[10] Multiple submitters
- p.Gly153= Multiple submitters
- p.Lys45Arg Multiple submitters squalene synthase deficiency
- p.Pro249= Multiple submitters
Likely benign 60
- c.100-179C>G Multiple submitters
- c.100-84TCCCAC[9] Multiple submitters
- p.Ile366= Multiple submitters
- p.Leu122= Multiple submitters
- p.Lys318= Multiple submitters
- c.100-130C>G Single submitter
- c.100-155C>G Single submitter
- c.100-195G>A Single submitter
- c.100-208C>T Single submitter
- c.100-295C>T Single submitter
- c.100-40C>T Single submitter
- c.100-46_100-45insCACTCCCACTCCCGCTCC Single submitter
- c.100-7C>T Single submitter
- c.100-84TCCCAC[7] Single submitter
- c.1033-14T>C Single submitter
- c.1033-9C>T Single submitter
- c.198-16T>C Single submitter
- c.198-19A>G Single submitter
- c.381+14C>T Single submitter
- c.381+15G>A Single submitter
- c.382-20T>G Single submitter
- c.510+17A>G Single submitter
- c.702+20T>C Single submitter
- c.879+10G>A Single submitter
- c.879+9G>T Single submitter
- c.880-20T>C Single submitter
- c.880-44C>T Single submitter
- c.99+153C>T Single submitter
- c.99+410G>A Single submitter
- c.-5C>T Single submitter
- c.-75+143A>G Single submitter
- c.-75+149C>T Single submitter
- p.Ala144= Single submitter
- p.Ala266= Single submitter
- p.Ala328= Single submitter
- p.Arg238= Single submitter
- p.Asn251= Single submitter
- p.Gln375= Single submitter
- p.Gly226Glu Single submitter
- p.His268= Single submitter
- p.Ile58= Single submitter
- p.Leu209= Single submitter
- p.Leu40= Single submitter
- p.Phe132= Single submitter
- p.Pro29= Single submitter
- p.Pro350= Single submitter
- p.Pro372= Single submitter
- p.Ser278= Single submitter
- p.Ser284= Single submitter
- p.Thr368= Single submitter
- p.Tyr304= Single submitter
- p.Val179= Single submitter
- c.198-7T>A No assertion criteria FDFT1-related disorder
- c.880-21dup No assertion criteria FDFT1-related disorder
- c.-2G>A No assertion criteria FDFT1-related disorder
- p.Asp159= No assertion criteria FDFT1-related disorder
- p.Gln369Arg No assertion criteria FDFT1-related disorder
- p.His161= No assertion criteria FDFT1-related disorder
- p.Phe310Leu No assertion criteria FDFT1-related disorder
- p.Thr87Ser No assertion criteria FDFT1-related disorder
Uncertain significance 105
- c.100-84TCCCAC[11] Multiple submitters squalene synthase deficiency
- c.100-85G>C Multiple submitters FDFT1-related disorder
- p.Ala333Ser Multiple submitters ⚠
- p.Asn265Ser Multiple submitters ⚠
- p.Gly151Asp Multiple submitters ⚠
- p.Ile252Thr Multiple submitters ⚠
- p.Phe210Leu Multiple submitters ⚠
- p.Ser102Cys Multiple submitters ⚠
- c.100-101G>A Single submitter squalene synthase deficiency
- c.100-62_100-56delinsC Single submitter
- c.100-84TCCCAC[16] Single submitter FDFT1-related disorder
- c.100-86_100-85insCTCCCA Single submitter
- c.382-3dup Single submitter squalene synthase deficiency
- c.702+1G>T Single submitter
- p.Ala144Thr Single submitter ⚠
- p.Ala189Val Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala60Ser Single submitter ⚠
- p.Ala68Pro Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg203Gly Single submitter ⚠
- p.Arg203His Single submitter ⚠
- p.Arg281Ser Single submitter
- p.Arg367Gln Single submitter ⚠
- p.Arg379Gln Single submitter ⚠
- p.Arg52Cys Single submitter ⚠
- p.Asn205Lys Single submitter ⚠
- p.Asn305Ser Single submitter ⚠
- p.Asn373Ser Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asn99Asp Single submitter ⚠
- p.Asp145Glu Single submitter ⚠
- p.Asp245His Single submitter ⚠
- p.Asp253Tyr Single submitter ⚠
- p.Asp32Glu Single submitter ⚠
- p.Asp351Glu Single submitter ⚠
- p.Asp353Tyr Single submitter ⚠
- p.Asp410Glu Single submitter ⚠
- p.Asp62Glu Single submitter ⚠
- p.Cys147Gly Single submitter ⚠
- p.Cys43Trp Single submitter ⚠
- p.Gln120His Single submitter ⚠
- p.Gln224Glu Single submitter squalene synthase deficiency ⚠
- p.Gln257Leu Single submitter ⚠
- p.Gln307Arg Single submitter ⚠
- p.Gln307Lys Single submitter ⚠
- p.Gln369His Single submitter ⚠
- p.Glu167Asp Single submitter ⚠
- p.Glu344Gln Single submitter ⚠
- p.Glu91Asp Single submitter ⚠
- p.Gly63Glu Single submitter squalene synthase deficiency ⚠
- p.His101Asp Single submitter ⚠
- p.His173Gln Single submitter ⚠
- p.His381Gln Single submitter ⚠
- p.His381Pro Single submitter ⚠
- p.His417Asp Single submitter ⚠
- p.His417Tyr Single submitter ⚠
- p.His98Gln Single submitter ⚠
- p.Ile270Met Single submitter ⚠
- p.Ile270Phe Single submitter ⚠
- p.Ile362Asn Single submitter ⚠
- p.Ile362Thr Single submitter ⚠
- p.Ile385Ser Single submitter ⚠
- p.Ile385Val Single submitter ⚠
- p.Leu122Val Single submitter ⚠
- p.Leu262Val Single submitter ⚠
- p.Leu371Val Single submitter ⚠
- p.Leu7Ile Single submitter squalene synthase deficiency ⚠
- p.Leu82Val Single submitter ⚠
- p.Lys117Asn Single submitter
- p.Lys160_His161del Single submitter
- p.Lys30fs Single submitter
- p.Met207Val Single submitter ⚠
- p.Met31Ile Single submitter ⚠
- p.Met325Ile Single submitter ⚠
- p.Met331Ile Single submitter ⚠
- p.Met391Val Single submitter ⚠
- p.Phe103Cys Single submitter ⚠
- p.Phe132Leu Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro249Arg Single submitter ⚠
- p.Pro249Leu Single submitter ⚠
- p.Pro332Ala Single submitter ⚠
- p.Pro95Arg Single submitter ⚠
- p.Ser129Tyr Single submitter ⚠
- p.Ser237Gly Single submitter ⚠
- p.Ser352Pro Single submitter ⚠
- p.Ser355Phe Single submitter ⚠
- p.Ser357Arg Single submitter ⚠
- p.Ser39Thr Single submitter ⚠
- p.Thr127Met Single submitter ⚠
- p.Thr163Pro Single submitter ⚠
- p.Thr329Ile Single submitter
- p.Thr402Ile Single submitter ⚠
- p.Tyr220Cys Single submitter ⚠
- p.Tyr239Asn Single submitter ⚠
- p.Tyr341His Single submitter ⚠
- p.Tyr382Asn Single submitter ⚠
- p.Tyr411Cys Single submitter ⚠
- p.Val197Ile Single submitter ⚠
- p.Val27Met Single submitter ⚠
- p.Asn205His No assertion criteria ⚠
- p.Ser37Asn No assertion criteria ⚠
- p.Tyr44Ser No assertion criteria ⚠