Is MYO7A p.Tyr1017Ter (c.3050dup) pathogenic?

MYO7A p.Tyr1017Ter (c.3050dup) is classified Pathogenic in MYO7A (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-09). Associated with autosomal recessive nonsyndromic hearing loss 2.

What condition is associated with MYO7A p.Tyr1017Ter (c.3050dup)?

MYO7A p.Tyr1017Ter (c.3050dup) is associated with autosomal recessive nonsyndromic hearing loss 2 (ClinVar).

MYO7A p.Tyr1017Ter

c.3050dup · VCV3601468

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive nonsyndromic hearing loss 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 24 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.1	GERP 0.71, phastCons 1

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

Variant & gene context

Gene: MYO7A
Protein: p.Tyr1017Ter
Coding: c.3050dup
MANE Select: NM_000260
Type: Duplication
Location: chr11:77182095 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 1017: the myth4 1 domain

Full MYO7A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal recessive nonsyndromic hearing loss 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MYO7A p.Tyr1017del Uncertain significance same residue
MYO7A p.Asp365fs Pathogenic ★★ same condition
MYO7A p.Glu1830fs Likely pathogenic ★★ same condition
MYO7A p.His133fs Pathogenic ★★ same condition
MYO7A p.Leu1046fs Pathogenic ★★ same condition
MYO7A p.Lys542fs Pathogenic ★★ same condition
MYO7A p.Met283fs Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Pro1244fs Pathogenic/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/myo7a-p-tyr1017ter (accessed [today's date]).

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