OTOA c.(?_2302
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Rare genetic deafness
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- OTOA
- Coding
- c.(?_2302
- MANE Select
- NM_144672
- Type
- Deletion
- Location
- chr16:None (GRCh38)
- Gene constraint
- LOEUF 0.822 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.12
Similar variants
- OTOA p.His987fs Pathogenic ★ same condition
- OTOA c.1880+1G>A Pathogenic/Likely pathogenic ★★ same condition
- OTOA p.Ser249fs Pathogenic/Likely pathogenic ★★ same condition
- OTOA c.1688+1G>T Pathogenic ★ same condition
- OTOA c.268-2A>G Pathogenic ★ same condition
- OTOA p.Arg699fs Likely pathogenic ★★ same type
- OTOA p.Gln589fs Pathogenic/Likely pathogenic ★★ same type
- OTOA p.Ile701fs Pathogenic ★★ same type
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/otoa-c-2302 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown