Sugi Variant

Sugi Variant/HARS1

HARS1 — 676 ClinVar variants

All ClinVar germline HARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 318 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 35 Conflicting · 19 Benign · 10 Benign/Likely benign · 212 Likely benign · 390 Uncertain significance

Full HARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 318

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 21

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

Predictors lean, ClinVar uncertain 206

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 206

Predictors split 90

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

All HARS1 variants

Pathogenic 6

  • c.730delG Single submitter spastic ataxia
  • p.Asp206Tyr Single submitter spastic ataxia ⚠
  • p.Leu305dup Single submitter spastic ataxia
  • p.Asp175Glu No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2W
  • p.Asp364Tyr No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2W
  • p.Pro134His No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2W

Pathogenic/Likely pathogenic 1

  • p.Thr132Ile Multiple submitters HARS-related disorders

Likely pathogenic 3

  • c.*331A>T Single submitter HARS1-related multi-system ataxia syndrome
  • p.Thr58fs Single submitter autosomal dominant Charcot-Marie-Tooth disease type 2W
  • p.Val133Phe Single submitter autosomal dominant Charcot-Marie-Tooth disease type 2W

Conflicting classifications of pathogenicity 35

Benign 19

Benign/Likely benign 10

  • c.181-15G>C Multiple submitters Usher syndrome type 3B
  • c.396+20C>T Multiple submitters Usher syndrome type 3B
  • c.730-17G>A Multiple submitters Usher syndrome type 3B
  • c.91-17del Multiple submitters Usher syndrome type 3B
  • p.Asp301= Multiple submitters Usher syndrome type 3B
  • p.Asp78= Multiple submitters Usher syndrome type 3B
  • p.Gln14Lys Multiple submitters Usher syndrome type 3B
  • p.Gly205Asp Multiple submitters Usher syndrome type 3B
  • p.Leu421Val Multiple submitters Usher syndrome type 3B ⚠
  • p.Thr482Met Multiple submitters Usher syndrome type 3B

Likely benign 212

Uncertain significance 390

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