GTF3C5 — 103 ClinVar variants
All ClinVar germline GTF3C5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
11 Likely benign · 92 Uncertain significance
Full GTF3C5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GTF3C5 p.Arg261Cys Uncertain significance Multiple submitters
- GTF3C5 p.Ala13Thr Uncertain significance Single submitter
- GTF3C5 p.Ala13Val Uncertain significance Single submitter
-
GTF3C5 p.Ala268Val
Uncertain significance
Single submitter
myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- GTF3C5 p.Ala332Thr Uncertain significance Single submitter
- GTF3C5 p.Ala5Thr Uncertain significance Single submitter
- GTF3C5 p.Ala5Val Uncertain significance Single submitter
- GTF3C5 p.Arg153Gln Uncertain significance Single submitter
- GTF3C5 p.Arg175Trp Uncertain significance Single submitter
- GTF3C5 p.Arg19Lys Uncertain significance Single submitter
- GTF3C5 p.Arg20Trp Uncertain significance Single submitter
- GTF3C5 p.Arg248Trp Uncertain significance Single submitter
- GTF3C5 p.Arg308Gln Uncertain significance Single submitter
- GTF3C5 p.Arg379Gln Uncertain significance Single submitter
- GTF3C5 p.Arg379Trp Uncertain significance Single submitter
- GTF3C5 p.Arg435Trp Uncertain significance Single submitter
- GTF3C5 p.Arg456Gln Uncertain significance Single submitter
- GTF3C5 p.Arg456Trp Uncertain significance Single submitter
- GTF3C5 p.Arg460Cys Uncertain significance Single submitter
- GTF3C5 p.Arg59Gly Uncertain significance Single submitter
- GTF3C5 p.Arg78Cys Uncertain significance Single submitter
- GTF3C5 p.Asn215Ser Uncertain significance Single submitter
- GTF3C5 p.Asn425Ser Uncertain significance Single submitter
- GTF3C5 p.Asp449Gly Uncertain significance Single submitter
- GTF3C5 p.Asp7Glu Uncertain significance Single submitter
- GTF3C5 p.Asp7Gly Uncertain significance Single submitter
- GTF3C5 p.Cys411Ser Uncertain significance Single submitter
- GTF3C5 p.Glu106Gln Uncertain significance Single submitter
- GTF3C5 p.Glu417Asp Uncertain significance Single submitter
- GTF3C5 p.Gly125Ala Uncertain significance Single submitter
- GTF3C5 p.Gly371Arg Uncertain significance Single submitter
- GTF3C5 p.Gly427Arg Uncertain significance Single submitter
- GTF3C5 p.Gly44Asp Uncertain significance Single submitter
- GTF3C5 p.Gly506Ser Uncertain significance Single submitter
- GTF3C5 p.Gly97Val Uncertain significance Single submitter
- GTF3C5 p.His142Arg Uncertain significance Single submitter
- GTF3C5 p.Ile120Asn Uncertain significance Single submitter
- GTF3C5 p.Ile394Leu Uncertain significance Single submitter
- GTF3C5 p.Ile88Val Uncertain significance Single submitter
- GTF3C5 p.Leu349Phe Uncertain significance Single submitter
- GTF3C5 p.Leu40Val Uncertain significance Single submitter
- GTF3C5 p.Leu466Val Uncertain significance Single submitter
- GTF3C5 p.Lys502Gln Uncertain significance Single submitter
- GTF3C5 p.Met126Leu Uncertain significance Single submitter
- GTF3C5 p.Met24Val Uncertain significance Single submitter
- GTF3C5 p.Met291Val Uncertain significance Single submitter
- GTF3C5 p.Met363Val Uncertain significance Single submitter
- GTF3C5 p.Met454Val Uncertain significance Single submitter
- GTF3C5 p.Phe183Tyr Uncertain significance Single submitter
- GTF3C5 p.Phe221Leu Uncertain significance Single submitter
- GTF3C5 p.Phe258Leu Uncertain significance Single submitter
- GTF3C5 p.Pro165Gln Uncertain significance Single submitter
- GTF3C5 p.Pro171His Uncertain significance Single submitter
- GTF3C5 p.Pro197Ser Uncertain significance Single submitter
- GTF3C5 p.Pro337Leu Uncertain significance Single submitter
- GTF3C5 p.Ser105Cys Uncertain significance Single submitter
- GTF3C5 p.Ser200Leu Uncertain significance Single submitter
- GTF3C5 p.Ser208Asn Uncertain significance Single submitter
- GTF3C5 p.Ser343Asn Uncertain significance Single submitter
- GTF3C5 p.Ser373Leu Uncertain significance Single submitter
- GTF3C5 p.Ser383Phe Uncertain significance Single submitter
- GTF3C5 p.Thr450Ile Uncertain significance Single submitter
- GTF3C5 p.Thr458Ala Uncertain significance Single submitter
- GTF3C5 p.Trp300Cys Uncertain significance Single submitter
- GTF3C5 p.Tyr518Phe Uncertain significance Single submitter
- GTF3C5 p.Val246Met Uncertain significance Single submitter
- GTF3C5 p.Val33Met Uncertain significance Single submitter
- GTF3C5 p.Val49Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- GTF3C5 p.Arg342Gly Uncertain significance Single submitter
- GTF3C5 p.Arg342His Uncertain significance Single submitter
- GTF3C5 p.Arg424Cys Uncertain significance Single submitter
- GTF3C5 p.Arg87Cys Uncertain significance Single submitter
- GTF3C5 p.Arg87Leu Uncertain significance Single submitter
- GTF3C5 p.Asp517Gly Uncertain significance Single submitter
- GTF3C5 p.Asp7Tyr Uncertain significance Single submitter
- GTF3C5 p.Gly140Ser Uncertain significance Single submitter
- GTF3C5 p.Gly330Asp Uncertain significance Single submitter
- GTF3C5 p.His276Gln Uncertain significance Single submitter
- GTF3C5 p.Lys90Asn Uncertain significance Single submitter
- GTF3C5 p.Met39Ile Uncertain significance Single submitter
- GTF3C5 p.Met39Val Uncertain significance Single submitter
- GTF3C5 p.Phe467Leu Uncertain significance Single submitter
- GTF3C5 p.Pro165Leu Uncertain significance Single submitter
-
GTF3C5 p.Pro169Leu
Uncertain significance
Single submitter
Multisystem developmental disorder
- GTF3C5 p.Pro350Arg Uncertain significance Single submitter
- GTF3C5 p.Ser461Phe Uncertain significance Single submitter
- GTF3C5 p.Tyr316Phe Uncertain significance Single submitter
- GTF3C5 p.Tyr347Cys Uncertain significance Single submitter
- GTF3C5 p.Tyr70His Uncertain significance Single submitter
All GTF3C5 variants
Likely benign 11
- c.1250+4C>T Single submitter
- p.Ala235Val Single submitter
- p.Arg248Gln Single submitter
- p.Gln162Lys Single submitter
- p.Gly377Ser Single submitter
- p.Leu516= Single submitter
- p.Pro179= Single submitter
- p.Pro337= Single submitter
- p.Thr136= Single submitter
- p.Thr481= Single submitter
- p.Val14Ile Single submitter
Uncertain significance 92
- p.Arg261Cys Multiple submitters ⚠
- c.1167+148C>T Single submitter
- p.Ala13Thr Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala268Val Single submitter myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Arg153Gln Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg19Lys Single submitter ⚠
- p.Arg20Trp Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg342Gly Single submitter ⚠
- p.Arg342His Single submitter ⚠
- p.Arg379Gln Single submitter ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg424Cys Single submitter ⚠
- p.Arg435Trp Single submitter ⚠
- p.Arg456Gln Single submitter ⚠
- p.Arg456Trp Single submitter ⚠
- p.Arg460Cys Single submitter ⚠
- p.Arg59Gly Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg87Cys Single submitter ⚠
- p.Arg87Leu Single submitter ⚠
- p.Asn215Ser Single submitter ⚠
- p.Asn425Ser Single submitter ⚠
- p.Asp449Gly Single submitter ⚠
- p.Asp517Gly Single submitter ⚠
- p.Asp7Glu Single submitter ⚠
- p.Asp7Gly Single submitter ⚠
- p.Asp7Tyr Single submitter ⚠
- p.Cys411Ser Single submitter ⚠
- p.Glu106Gln Single submitter ⚠
- p.Glu155Ter Single submitter Multisystem developmental disorder
- p.Glu417Asp Single submitter ⚠
- p.Gly125Ala Single submitter ⚠
- p.Gly140Ser Single submitter ⚠
- p.Gly330Asp Single submitter ⚠
- p.Gly371Arg Single submitter ⚠
- p.Gly427Arg Single submitter ⚠
- p.Gly44Asp Single submitter ⚠
- p.Gly506Ser Single submitter ⚠
- p.Gly97Val Single submitter ⚠
- p.His142Arg Single submitter ⚠
- p.His276Gln Single submitter ⚠
- p.Ile120Asn Single submitter ⚠
- p.Ile394Leu Single submitter ⚠
- p.Ile88Val Single submitter ⚠
- p.Leu349Phe Single submitter ⚠
- p.Leu40Val Single submitter ⚠
- p.Leu466Val Single submitter ⚠
- p.Lys385Asn Single submitter
- p.Lys502Gln Single submitter ⚠
- p.Lys90Asn Single submitter ⚠
- p.Met126Leu Single submitter ⚠
- p.Met24Val Single submitter ⚠
- p.Met291Val Single submitter ⚠
- p.Met363Val Single submitter ⚠
- p.Met39Ile Single submitter ⚠
- p.Met39Val Single submitter ⚠
- p.Met454Val Single submitter ⚠
- p.Phe183Tyr Single submitter ⚠
- p.Phe221Leu Single submitter ⚠
- p.Phe258Leu Single submitter ⚠
- p.Phe467Leu Single submitter ⚠
- p.Pro165Gln Single submitter ⚠
- p.Pro165Leu Single submitter ⚠
- p.Pro169Leu Single submitter Multisystem developmental disorder ⚠
- p.Pro171His Single submitter ⚠
- p.Pro197Ser Single submitter ⚠
- p.Pro337Leu Single submitter ⚠
- p.Pro350Arg Single submitter ⚠
- p.Ser105Cys Single submitter ⚠
- p.Ser200Leu Single submitter ⚠
- p.Ser208Asn Single submitter ⚠
- p.Ser343Asn Single submitter ⚠
- p.Ser373Leu Single submitter ⚠
- p.Ser383Phe Single submitter ⚠
- p.Ser461Phe Single submitter ⚠
- p.Thr450Ile Single submitter ⚠
- p.Thr458Ala Single submitter ⚠
- p.Trp300Cys Single submitter ⚠
- p.Tyr316Phe Single submitter ⚠
- p.Tyr347Cys Single submitter ⚠
- p.Tyr518Phe Single submitter ⚠
- p.Tyr70His Single submitter ⚠
- p.Val246Met Single submitter ⚠
- p.Val33Met Single submitter ⚠
- p.Val49Ile Single submitter ⚠