Sugi Variant

Sugi Variant/MTHFD1

MTHFD1 — 641 ClinVar variants

All ClinVar germline MTHFD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →

13 Pathogenic · 4 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 7 Conflicting · 12 Benign · 16 Benign/Likely benign · 323 Likely benign · 242 Uncertain significance

Full MTHFD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 214

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 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 157

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 157

Predictors split 53

The independent predictors disagree with each other — read with care.

All MTHFD1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 4

  • c.727+1G>A Multiple submitters combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Arg173Cys Multiple submitters MTHFD1-related disorder
  • p.Ile53fs Multiple submitters combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Ser49Phe Multiple submitters MTHFD1-related disorder

Likely pathogenic 24

  • p.Gln100Ter Multiple submitters neural tube defects, folate-sensitive
  • c.1090_1127+63del Single submitter
  • c.1264+1G>A Single submitter
  • c.1494+1G>A Single submitter
  • c.1494+1G>C Single submitter
  • c.1996+1G>A Single submitter
  • c.2280-1G>T Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • c.241-4_250del Single submitter
  • c.377+1G>C Single submitter
  • c.479-2A>G Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • c.615+1G>A Single submitter
  • c.616-2A>C Single submitter
  • c.953+1G>A Single submitter
  • p.Arg336Ter Single submitter severe combined immunodeficiency
  • p.Arg585fs Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Asp244fs Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Cys143fs Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Gln877Ter Single submitter severe combined immunodeficiency
  • p.Glu603Ter Single submitter severe combined immunodeficiency
  • p.Glu844fs Single submitter severe combined immunodeficiency
  • p.Ile85fs Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Leu51Pro Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Lys297fs Single submitter MTHFD1-related disorder
  • p.Thr269Ile Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Conflicting classifications of pathogenicity 7

  • c.1675-7C>T Single submitter
  • c.1816-10T>G Single submitter
  • c.240+9T>C Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • p.Arg293His Single submitter combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia ⚠
  • p.Glu204Lys Single submitter Inborn genetic diseases ⚠
  • p.Pro328Leu Single submitter neural tube defects, folate-sensitive ⚠
  • p.Val802Ile Single submitter ⚠

Benign 12

Benign/Likely benign 16

Likely benign 323

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 242