Sugi Variant

Sugi Variant/MIPEP

MIPEP — 357 ClinVar variants

All ClinVar germline MIPEP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

5 Pathogenic · 9 Likely pathogenic · 24 Conflicting · 32 Benign · 18 Benign/Likely benign · 108 Likely benign · 161 Uncertain significance

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

⚑ Evidence disagreements 147

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 13

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

Predictors lean, ClinVar uncertain 100

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 34

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

All MIPEP variants

Pathogenic 5

Likely pathogenic 9

  • c.1848+2T>G Multiple submitters lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Asp120Asn Multiple submitters lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • c.1107-2A>G Single submitter
  • c.786+1G>C Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Arg440Ter Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Gly297Ala Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Leu420Pro Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Met1Ile Single submitter MIPEP-related disorders
  • p.Trp618Ter Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Conflicting classifications of pathogenicity 24

  • c.1053+1G>A Single submitter Inborn genetic diseases
  • c.1728+5G>T Single submitter Inborn genetic diseases
  • p.Ala14Thr Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ⚠
  • p.Arg181Ter Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Arg240His Single submitter Inborn genetic diseases ⚠
  • p.Arg264Ter Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Arg63Leu Single submitter ⚠
  • p.Gln278= Single submitter
  • p.Gly609fs Single submitter Inborn genetic diseases
  • p.Gly682Asp Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ⚠
  • p.His232Arg Single submitter Inborn genetic diseases ⚠
  • p.His512Asp Single submitter Floppy infant ⚠
  • p.Ile452Leu Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ⚠
  • p.Leu197Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu306Phe Single submitter Floppy infant ⚠
  • p.Lys343Glu Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ⚠
  • p.Met557Thr Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Met573Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe380fs Single submitter
  • p.Pro379Leu Single submitter Inborn genetic diseases
  • p.Ser414Gly Single submitter Inborn genetic diseases ⚠
  • p.Tyr360fs Single submitter
  • p.Tyr586fs Single submitter lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • p.Val698Ile Single submitter Inborn genetic diseases ⚠

Benign 32

Benign/Likely benign 18

Likely benign 108

Uncertain significance 161