Sugi Variant

Sugi Variant/MRPS22

MRPS22 — 216 ClinVar variants

All ClinVar germline MRPS22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 12 Conflicting · 24 Benign · 6 Benign/Likely benign · 57 Likely benign · 97 Uncertain significance

Full MRPS22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 3

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

Predictors lean, ClinVar uncertain 63

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

Predictors split 22

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

All MRPS22 variants

Pathogenic 12

Pathogenic/Likely pathogenic 2

  • p.Arg170His Multiple submitters ovarian dysgenesis 7
  • p.Asp292fs Multiple submitters hypotonia with lactic acidemia and hyperammonemia

Likely pathogenic 6

Conflicting classifications of pathogenicity 12

  • c.172+7G>T Single submitter hypotonia with lactic acidemia and hyperammonemia
  • c.340-14T>A Single submitter hypotonia with lactic acidemia and hyperammonemia
  • p.Ala109= Single submitter hypotonia with lactic acidemia and hyperammonemia
  • p.Ala2= Single submitter hypotonia with lactic acidemia and hyperammonemia
  • p.Arg168Trp Single submitter hypotonia with lactic acidemia and hyperammonemia ⚠
  • p.Arg202His Single submitter muscular dystrophy, adult-onset, with leukoencephalopathy ⚠
  • p.Arg256His Single submitter Inborn genetic diseases ⚠
  • p.Gln30= Single submitter hypotonia with lactic acidemia and hyperammonemia
  • p.Leu346fs Single submitter hypotonia with lactic acidemia and hyperammonemia
  • p.Ser313Leu Single submitter hypotonia with lactic acidemia and hyperammonemia ⚠
  • p.Thr206Ile Single submitter hypotonia with lactic acidemia and hyperammonemia ⚠
  • p.Arg135Gln No assertion criteria ovarian dysgenesis 7 ⚠

Benign 24

Benign/Likely benign 6

Likely benign 57

Uncertain significance 97