Is CHM c.(?_-1 pathogenic?

CHM c.(?-1 is classified Likely pathogenic in CHM (ClinVar, No assertion criteria, 1 submitter). Associated with inherited retinal dystrophy.

What condition is associated with CHM c.(?_-1?

CHM c.(?_-1 is associated with inherited retinal dystrophy (ClinVar).

CHM c.(?_-1

VCV375229

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

inherited retinal dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: CHM
Coding: c.(?_-1
MANE Select: NM_000390
Type: Deletion
Structure: AlphaFold pLDDT 81.05

Full CHM gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

inherited retinal dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CHM p.Ser105Argfs Pathogenic ★★ same condition
CHM p.Tyr551fs Pathogenic ★★ same condition
CHM c.(116+1_117-1 Pathogenic ★ same condition
CHM c.(1413+1_1414-1 Pathogenic ★ same condition
CHM c.(1510+1_1511-1 Pathogenic ★ same condition
CHM c.(314+1_315-1 Pathogenic ★ same condition
CHM p.Asn170fs Likely pathogenic ★ same condition
CHM p.Glu179fs Pathogenic ★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/chm-c-minus-1 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown