Sugi Variant

Sugi Variant/LYRM7

LYRM7 — 89 ClinVar variants

All ClinVar germline LYRM7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 1 Conflicting · 13 Benign · 3 Benign/Likely benign · 25 Likely benign · 29 Uncertain significance

Full LYRM7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 26

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 1

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

Predictors lean, ClinVar uncertain 21

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

Predictors split 4

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

All LYRM7 variants

Pathogenic 8

  • p.Thr13fs Multiple submitters mitochondrial complex III deficiency nuclear type 8
  • c.245-1G>A Single submitter mitochondrial complex III deficiency nuclear type 1
  • p.Leu8fs Single submitter
  • p.Lys51fs Single submitter
  • c.244+5dup No assertion criteria mitochondrial complex III deficiency nuclear type 8
  • p.Asp25Asn No assertion criteria mitochondrial complex III deficiency nuclear type 8
  • p.Gln72Ter No assertion criteria mitochondrial complex III deficiency nuclear type 8
  • p.Leu66dup No assertion criteria mitochondrial complex III deficiency nuclear type 8

Pathogenic/Likely pathogenic 1

  • p.Met1Thr Multiple submitters mitochondrial complex III deficiency nuclear type 8

Likely pathogenic 9

  • c.162+1G>A Single submitter
  • c.162+2T>A Single submitter
  • c.19-3C>G Single submitter mitochondrial complex III deficiency nuclear type 8
  • c.243_244+2del Single submitter mitochondrial complex III deficiency nuclear type 8
  • c.91+1G>T Single submitter LYRM7-related disorders
  • p.Gln72Glu Single submitter mitochondrial complex III deficiency nuclear type 8
  • p.Glu30Ter Single submitter LYRM7-related disorders
  • p.Lys103fs Single submitter mitochondrial complex III deficiency nuclear type 8
  • p.Lys35Ter Single submitter mitochondrial complex III deficiency nuclear type 8

Conflicting classifications of pathogenicity 1

  • p.Asp88Glu Single submitter mitochondrial complex III deficiency nuclear type 8 ⚠

Benign 13

Benign/Likely benign 3

Likely benign 25

Uncertain significance 29