Is MYO7A p.Ile94fs (c.275_278dup) pathogenic?

MYO7A p.Ile94fs (c.275278dup) is classified Likely pathogenic in MYO7A (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-04-04). No gnomAD frequency available for this variant; Associated with Usher syndrome type 1.

What condition is associated with MYO7A p.Ile94fs (c.275_278dup)?

MYO7A p.Ile94fs (c.275_278dup) is associated with Usher syndrome type 1 (ClinVar).

How common is MYO7A p.Ile94fs (c.275_278dup) in the general population?

MYO7A p.Ile94fs (c.275_278dup) is no gnomAD frequency available for this variant (gnomAD).

How is Usher syndrome inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

MYO7A p.Ile94fs

c.275_278dup · rs2496578693 · VCV1725858

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Usher syndrome type 1

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 4 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 1.6, 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: MYO7A
Protein: p.Ile94fs
Coding: c.275_278dup
MANE Select: NM_000260
dbSNP: rs2496578693
Type: Duplication
Location: chr11:77147939 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 94: the myosin motor domain

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

Disease context

Usher syndrome type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Usher syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

MYO7A p.Glu1830fs Likely pathogenic ★★ same condition
MYO7A p.His133fs Pathogenic ★★ same condition
MYO7A p.Lys2078fs 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
MYO7A p.Ser611_Ser612insTer Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Tyr1396fs 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-ile94fs (accessed [today's date]).

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