Sugi Variant

Sugi Variant/MACF1

MACF1 — 2156 ClinVar variants

All ClinVar germline MACF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 532 flagged for review →

5 Pathogenic · 5 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 108 Conflicting · 159 Benign · 105 Benign/Likely benign · 774 Likely benign · 986 Uncertain significance

Full MACF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 532

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 58

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

Predictors lean, ClinVar uncertain 407

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 407

Predictors split 67

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

All MACF1 variants

Pathogenic 5

Pathogenic/Likely pathogenic 5

  • c.10617+444_15577-288del No assertion criteria lissencephaly with brainstem hypoplasia
  • p.Asp7293Tyr No assertion criteria lissencephaly with brainstem hypoplasia
  • p.Cys7295Gly No assertion criteria lissencephaly with brainstem hypoplasia
  • p.Cys7295Phe No assertion criteria lissencephaly with brainstem hypoplasia
  • p.Gly6765Arg No assertion criteria lissencephaly 9 with complex brainstem malformation

Likely pathogenic 14

  • p.Arg7251Pro Multiple submitters lissencephaly 9 with complex brainstem malformation
  • c.16149+1G>T Single submitter lissencephaly 9 with complex brainstem malformation
  • c.16804-2A>G Single submitter lissencephaly 9 with complex brainstem malformation
  • c.21679-1G>A Single submitter
  • c.21679-2A>G Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Arg2377fs Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Arg7192Ter Single submitter neurodevelopmental disorder
  • p.Arg7239Ser Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Arg7268His Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Glu110fs Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Leu653Phe Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Phe6763Cys Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Val7274Met Single submitter lissencephaly 9 with complex brainstem malformation
  • p.Arg7478His No assertion criteria Short stature

Conflicting classifications of pathogenicity 108

Benign 159

Benign/Likely benign 105

Likely benign 774

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

Uncertain significance 986

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