MTHFD2 — 51 ClinVar variants
All ClinVar germline MTHFD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
3 Likely benign · 48 Uncertain significance
Full MTHFD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MTHFD2 p.Ala12Ser Uncertain significance Single submitter
- MTHFD2 p.Ala12Val Uncertain significance Single submitter
- MTHFD2 p.Ala218Thr Uncertain significance Single submitter
- MTHFD2 p.Arg13Leu Uncertain significance Single submitter
- MTHFD2 p.Arg26Cys Uncertain significance Single submitter
- MTHFD2 p.Arg337Gln Uncertain significance Single submitter
- MTHFD2 p.Arg54Gln Uncertain significance Single submitter
- MTHFD2 p.Asn87Ser Uncertain significance Single submitter
- MTHFD2 p.Asp124Asn Uncertain significance Single submitter
- MTHFD2 p.Asp281Gly Uncertain significance Single submitter
- MTHFD2 p.Cys21Trp Uncertain significance Single submitter
- MTHFD2 p.Gln169Arg Uncertain significance Single submitter
- MTHFD2 p.Gly206Glu Uncertain significance Single submitter
- MTHFD2 p.His19Asn Uncertain significance Single submitter
- MTHFD2 p.His19Tyr Uncertain significance Single submitter
- MTHFD2 p.Ile102Leu Uncertain significance Single submitter
- MTHFD2 p.Ile102Met Uncertain significance Single submitter
- MTHFD2 p.Ile108Val Uncertain significance Single submitter
- MTHFD2 p.Leu23Phe Uncertain significance Single submitter
- MTHFD2 p.Leu332Met Uncertain significance Single submitter
- MTHFD2 p.Leu6Val Uncertain significance Single submitter
- MTHFD2 p.Lys185Arg Uncertain significance Single submitter
- MTHFD2 p.Lys237Glu Uncertain significance Single submitter
- MTHFD2 p.Lys50Glu Uncertain significance Single submitter
- MTHFD2 p.Met103Thr Uncertain significance Single submitter
- MTHFD2 p.Met321Leu Uncertain significance Single submitter
- MTHFD2 p.Met7Ile Uncertain significance Single submitter
- MTHFD2 p.Pro136Ser Uncertain significance Single submitter
- MTHFD2 p.Pro309Ser Uncertain significance Single submitter
- MTHFD2 p.Ser20Arg Uncertain significance Single submitter
- MTHFD2 p.Ser22Phe Uncertain significance Single submitter
- MTHFD2 p.Ser71Thr Uncertain significance Single submitter
- MTHFD2 p.Ser81Gly Uncertain significance Single submitter
- MTHFD2 p.Ser83Thr Uncertain significance Single submitter
- MTHFD2 p.Thr244Lys Uncertain significance Single submitter
- MTHFD2 p.Val126Ile Uncertain significance Single submitter
- MTHFD2 p.Val347Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- MTHFD2 p.Ala254Ser Uncertain significance Single submitter
- MTHFD2 p.Ala327Gly Uncertain significance Single submitter
- MTHFD2 p.Ala91Val Uncertain significance Single submitter
- MTHFD2 p.Arg67Trp Uncertain significance Single submitter
- MTHFD2 p.Glu77Lys Uncertain significance Single submitter
- MTHFD2 p.Met172Thr Uncertain significance Single submitter
- MTHFD2 p.Thr244Ile Uncertain significance Single submitter
- MTHFD2 p.Thr244Ser Uncertain significance Single submitter
All MTHFD2 variants
Likely benign 3
- p.Ala218= Single submitter
- p.Ile251Val Single submitter
- p.Leu25Pro Single submitter
Uncertain significance 48
- p.Ala12Ser Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala254Ser Single submitter ⚠
- p.Ala327Gly Single submitter ⚠
- p.Ala91Val Single submitter ⚠
- p.Arg13Leu Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg54Gln Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Asn87Ser Single submitter ⚠
- p.Asp123Glu Single submitter
- p.Asp124Asn Single submitter ⚠
- p.Asp281Gly Single submitter ⚠
- p.Cys21Trp Single submitter ⚠
- p.Gln169Arg Single submitter ⚠
- p.Glu110Lys Single submitter
- p.Glu77Lys Single submitter ⚠
- p.Gly206Glu Single submitter ⚠
- p.His19Asn Single submitter ⚠
- p.His19Tyr Single submitter ⚠
- p.Ile102Leu Single submitter ⚠
- p.Ile102Met Single submitter ⚠
- p.Ile108Val Single submitter ⚠
- p.Leu23Phe Single submitter ⚠
- p.Leu332Met Single submitter ⚠
- p.Leu6Val Single submitter ⚠
- p.Lys185Arg Single submitter ⚠
- p.Lys237Glu Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Met172Thr Single submitter ⚠
- p.Met321Leu Single submitter ⚠
- p.Met7Ile Single submitter ⚠
- p.Pro136Ser Single submitter ⚠
- p.Pro309Ser Single submitter ⚠
- p.Ser20Arg Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser71Thr Single submitter ⚠
- p.Ser81Gly Single submitter ⚠
- p.Ser83Thr Single submitter ⚠
- p.Thr244Ile Single submitter ⚠
- p.Thr244Lys Single submitter ⚠
- p.Thr244Ser Single submitter ⚠
- p.Val126Ile Single submitter ⚠
- p.Val205Ile Single submitter
- p.Val347Ile Single submitter ⚠