OTOG c.(?_3914
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hearing loss disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- OTOG
- Coding
- c.(?_3914
- MANE Select
- NM_001292063 · reported on NM_001277269
- Type
- Deletion
- Gene constraint
- LOEUF 1.091 · pLI <0.01 (gnomAD)
Similar variants
- OTOG p.Gly133Ser Uncertain significance ★★ ⚠ same condition
- OTOG p.Ser1247Asn Uncertain significance ★★ same condition
- OTOG p.Cys484Phe Likely pathogenic ★ same condition
- OTOG p.Gln400Ter Pathogenic ★ same condition
- OTOG c.2760-3C>G Uncertain significance ★ same condition
- OTOG p.Arg2084Trp Uncertain significance ★ ⚠ same condition
- OTOG p.Asp294Glu Uncertain significance ★ ⚠ same condition
- OTOG c.2561+1del Likely 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/otog-c-3914 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown