Sugi Variant

Sugi Variant/MADD

MADD — 393 ClinVar variants

All ClinVar germline MADD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 256 flagged for review →

14 Pathogenic · 2 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 8 Conflicting · 12 Benign · 1 Benign/Likely benign · 56 Likely benign · 277 Uncertain significance

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

⚑ Evidence disagreements 256

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 6

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

Predictors lean, ClinVar uncertain 188

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 188

Predictors split 61

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

All MADD variants

Pathogenic 14

  • c.2816+1G>A Multiple submitters deeah syndrome
  • p.Arg1532Ter Multiple submitters neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Cys1464fs Single submitter Inborn genetic diseases
  • p.Leu1370Ter Single submitter multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
  • p.Lys1361fs Single submitter MADD-related disorder
  • p.Ser1429fs Single submitter Inborn genetic diseases
  • p.Ser237Ter Single submitter
  • c.(1862+1_1863-1 No assertion criteria deeah syndrome
  • c.963+1G>A No assertion criteria deeah syndrome
  • p.Asp1212_Ser1213insTer No assertion criteria neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Gly305Val No assertion criteria deeah syndrome
  • p.Pro354Leu No assertion criteria neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Ser257Phe No assertion criteria deeah syndrome ⚠
  • p.Val1186_Met1187insTer No assertion criteria neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Pathogenic/Likely pathogenic 2

Likely pathogenic 23

  • c.1291-2A>G Single submitter neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • c.2412-2A>G Single submitter Inborn genetic diseases
  • c.3760-2A>C Single submitter
  • c.62_62+3del Single submitter neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • c.63-2A>G Single submitter deeah syndrome
  • p.Arg104Ter Single submitter deeah syndrome
  • p.Arg190Ter Single submitter MADD-related disorder
  • p.Arg795Ter Single submitter deeah syndrome
  • p.Arg90Ter Single submitter
  • p.Asn656Ser Single submitter deeah syndrome ⚠
  • p.Asn837fs Single submitter Autosomal recessive MADD-related disorders
  • p.Asp152fs Single submitter Autosomal recessive MADD-related disorders
  • p.Asp658fs Single submitter
  • p.Gln1024Ter Single submitter deeah syndrome
  • p.Gln311Ter Single submitter
  • p.Gln440Ter Single submitter
  • p.Gln535fs Single submitter MADD-related disorder
  • p.Glu1153fs Single submitter neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Met349fs Single submitter deeah syndrome
  • p.Ser1178fs Single submitter Autosomal recessive MADD-related disorders
  • p.Ser864Ter Single submitter deeah syndrome
  • p.Thr1174_Asp1175insTer Single submitter neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Val1607= Single submitter neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Conflicting classifications of pathogenicity 8

Benign 12

  • c.1290+3A>G Multiple submitters
  • c.3361+7A>G Multiple submitters
  • p.Ala602= Multiple submitters
  • p.Arg161His Multiple submitters
  • p.Arg765Gln Multiple submitters neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Asn480= Multiple submitters neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Glu347= Multiple submitters neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
  • p.Gly217Asp Multiple submitters
  • p.Val751Met Multiple submitters
  • p.Thr44Asn Single submitter
  • p.Ala361= No assertion criteria MADD-related disorder
  • p.Arg766Ter No assertion criteria MADD-related disorder

Benign/Likely benign 1

Likely benign 56

Uncertain significance 277