Is OTOG p.Pro969fs (c.2905_2924del) pathogenic?

OTOG p.Pro969fs (c.29052924del) is classified Likely pathogenic in OTOG (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-14). Associated with autosomal recessive nonsyndromic hearing loss 18B.

What condition is associated with OTOG p.Pro969fs (c.2905_2924del)?

OTOG p.Pro969fs (c.2905_2924del) is associated with autosomal recessive nonsyndromic hearing loss 18B (ClinVar).

OTOG p.Pro969fs

c.2905_2924del · VCV4850117

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive nonsyndromic hearing loss 18B

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 25 of 56
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.24	GERP -0.37

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: OTOG
Protein: p.Pro969fs
Coding: c.2905_2924del
MANE Select: NM_001292063
Type: Deletion
Location: chr11:17591480 (GRCh38)
Gene constraint: LOEUF 1.091 · pLI <0.01 (gnomAD)

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

Disease context

autosomal recessive nonsyndromic hearing loss 18B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

OTOG c.2561+1del Likely pathogenic ★★ same condition
OTOG p.Ala1503fs Pathogenic/Likely pathogenic ★★ same condition
OTOG p.Arg2473fs Pathogenic/Likely pathogenic ★★ same condition
OTOG p.Asp2241fs Pathogenic/Likely pathogenic ★★ same condition
OTOG p.Met1979fs Pathogenic/Likely pathogenic ★★ same condition
OTOG p.Ala1826fs Pathogenic ★ same condition
OTOG p.Ala306fs Likely pathogenic ★ same condition
OTOG p.Asp2623fs Likely 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/otog-p-pro969fs (accessed [today's date]).

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