Is USH2A c.(?_785 pathogenic?

USH2A c.(?785 is classified Pathogenic in USH2A (ClinVar, Single submitter, 1 submitter; last evaluated 2012-06-02). Associated with Rare genetic deafness.

What condition is associated with USH2A c.(?_785?

USH2A c.(?_785 is associated with Rare genetic deafness (ClinVar).

USH2A c.(?_785

VCV178656

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Rare genetic deafness

Computational evidence

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

Variant & gene context

Gene: USH2A
Coding: c.(?_785
MANE Select: NM_206933
Type: Deletion
Location: chr1:None (GRCh38)
Gene constraint: LOEUF 0.855 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)

Full USH2A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Rare genetic deafness — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

USH2A p.Cys1186fs Pathogenic/Likely pathogenic ★★ same condition
USH2A p.Leu2096_Ile2097insTer Pathogenic/Likely pathogenic ★★ same condition
USH2A p.Lys3397fs Pathogenic ★★ same condition
USH2A p.Pro3804fs Pathogenic ★★ same condition
USH2A p.Val1147fs Pathogenic ★★ same condition
USH2A c.(?_1645 Pathogenic ★ same condition
USH2A c.(?_7301 Pathogenic ★ same condition
USH2A c.(?_8682 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/ush2a-c-785 (accessed [today's date]).

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