OTOA p.Ser313fs
c.938del · VCV3393352
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
autosomal recessive nonsyndromic hearing loss 22
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 11 of 29 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2 | GERP -3.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- OTOA
- Protein
- p.Ser313fs
- Coding
- c.938del
- MANE Select
- NM_144672
- Type
- Deletion
- Location
- chr16:21700985 (GRCh38)
- Gene constraint
- LOEUF 0.822 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.12
Similar variants
- OTOA p.Gln589fs Pathogenic/Likely pathogenic ★★ same condition
- OTOA p.Ser277fs Pathogenic/Likely pathogenic ★★ same condition
- OTOA p.Thr785fs Likely pathogenic ★★ same condition
- OTOA p.Ala513fs Pathogenic ★ same condition
- OTOA p.His62fs Likely pathogenic ★ same condition
- OTOA p.Phe521fs Pathogenic ★ same condition
- OTOA p.Thr766fs Likely pathogenic ★ same condition
- OTOA p.Ile430_Leu431delinsMet Uncertain significance ★ 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/otoa-p-ser313fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown