Sugi Variant

Sugi Variant/MEGF8

MEGF8 — 1255 ClinVar variants

All ClinVar germline MEGF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 455 flagged for review →

18 Pathogenic · 3 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 28 Conflicting · 65 Benign · 41 Benign/Likely benign · 470 Likely benign · 610 Uncertain significance

Full MEGF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 455

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 23

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

Predictors lean, ClinVar uncertain 364

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 364

Predictors split 67

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

All MEGF8 variants

Pathogenic 18

  • p.Ala212fs Single submitter MEGF8-related Carpenter syndrome
  • p.Arg1193Ter Single submitter MEGF8-related Carpenter syndrome
  • p.Arg1370Ter Single submitter MEGF8-related Carpenter syndrome
  • p.Arg1629Ter Single submitter MEGF8-related Carpenter syndrome
  • p.Arg2101Ter Single submitter MEGF8-related Carpenter syndrome
  • p.Arg95Ter Single submitter MEGF8-related Carpenter syndrome
  • p.Gln696Ter Single submitter MEGF8-related Carpenter syndrome
  • p.Glu39fs Single submitter MEGF8-related Carpenter syndrome
  • p.Gly1411fs Single submitter MEGF8-related Carpenter syndrome
  • p.Leu1484fs Single submitter MEGF8-related Carpenter syndrome
  • p.Thr1149fs Single submitter MEGF8-related Carpenter syndrome
  • c.2499+1G>A No assertion criteria MEGF8-related Carpenter syndrome
  • c.5844+1G>A No assertion criteria MEGF8-related Carpenter syndrome
  • p.Arg448Ter No assertion criteria MEGF8-related Carpenter syndrome
  • p.Gly199Arg No assertion criteria MEGF8-related Carpenter syndrome
  • p.Leu2665fs No assertion criteria MEGF8-related Carpenter syndrome
  • p.Phe1692fs No assertion criteria MEGF8-related Carpenter syndrome
  • p.Ser2434Gly No assertion criteria MEGF8-related Carpenter syndrome ⚠

Pathogenic/Likely pathogenic 3

  • p.Arg419Ter Multiple submitters MEGF8-related Carpenter syndrome
  • p.Arg991Ter Multiple submitters MEGF8-related Carpenter syndrome
  • p.Arg1566His No assertion criteria MEGF8-related Carpenter syndrome

Likely pathogenic 20

Conflicting classifications of pathogenicity 28

Benign 65

Benign/Likely benign 41

  • c.2299-15_2299-12del Multiple submitters MEGF8-related Carpenter syndrome
  • c.4504-14G>A Multiple submitters MEGF8-related Carpenter syndrome
  • c.5011+15C>T Multiple submitters MEGF8-related Carpenter syndrome
  • c.5488+12T>C Multiple submitters MEGF8-related Carpenter syndrome
  • c.5489-16C>T Multiple submitters MEGF8-related Carpenter syndrome
  • c.5489-18T>C Multiple submitters MEGF8-related Carpenter syndrome
  • c.5721-10T>C Multiple submitters MEGF8-related Carpenter syndrome
  • c.6481+11T>G Multiple submitters MEGF8-related Carpenter syndrome
  • c.6482-16A>G Multiple submitters MEGF8-related Carpenter syndrome
  • c.6641+15G>A Multiple submitters MEGF8-related Carpenter syndrome
  • c.6641+9G>A Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ala1571= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ala2349= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Arg1594His Multiple submitters MEGF8-related Carpenter syndrome
  • p.Arg1878= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Arg2809Lys Multiple submitters MEGF8-related Carpenter syndrome
  • p.Asn1201= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Asn134= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Asp2347= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Asp306= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Cys1453= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Cys1480= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Cys634= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Gly165= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Gly2779= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Gly2822= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ile111= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Leu119= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Leu1384= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Pro1917= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Pro399= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ser1804= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ser2713= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ser2823Gly Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ser372= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Ser524= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Thr1614= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Tyr2577= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Val1842Leu Multiple submitters MEGF8-related Carpenter syndrome
  • p.Val2028= Multiple submitters MEGF8-related Carpenter syndrome
  • p.Val2352Met Multiple submitters MEGF8-related Carpenter syndrome

Likely benign 470

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

Uncertain significance 610

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