Is COCH p.Phe329fs (c.984_985dup) pathogenic?

COCH p.Phe329fs (c.984985dup) is classified Pathogenic in COCH (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-09-02). Absent from gnomAD; Associated with hearing loss, autosomal recessive 110.

What condition is associated with COCH p.Phe329fs (c.984_985dup)?

COCH p.Phe329fs (c.984_985dup) is associated with hearing loss, autosomal recessive 110 (ClinVar).

How common is COCH p.Phe329fs (c.984_985dup) in the general population?

COCH p.Phe329fs (c.984_985dup) is absent from gnomAD (gnomAD).

COCH p.Phe329fs

c.984_985dup · rs1895769400 · VCV870100

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hearing loss, autosomal recessive 110

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 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 1.9, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: COCH
Protein: p.Phe329fs
Coding: c.984_985dup
MANE Select: NM_004086
dbSNP: rs1895769400
Type: Duplication
Location: chr14:30885817 (GRCh38)
Gene constraint: LOEUF 0.896 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.93 · 1 PDB
Residue 329: a UniProt-annotated variant site (in dfnb110); the vwfa 1 domain

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

Disease context

hearing loss, autosomal recessive 110 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

COCH p.Ser381delinsArgTer Pathogenic ★★ same condition
COCH p.Arg180Ter Pathogenic/Likely pathogenic ★★ same condition
COCH p.Arg98Ter Likely pathogenic ★★ same condition
COCH p.Arg180Gln Uncertain significance ★★ ⚠ same condition
COCH c.*27A>T Benign ★★ same condition
COCH p.Thr352Ser Benign ★★ same condition
COCH p.Cys351Ter Likely pathogenic ★ same condition
COCH p.Leu39Ter 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/coch-p-phe329fs (accessed [today's date]).

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