Is MYO7A p.Pro1909fs (c.5723_5724insTGTA) pathogenic?

MYO7A p.Pro1909fs (c.57235724insTGTA) is classified Pathogenic in MYO7A (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-24). Associated with Usher syndrome type 1.

What condition is associated with MYO7A p.Pro1909fs (c.5723_5724insTGTA)?

MYO7A p.Pro1909fs (c.5723_5724insTGTA) is associated with Usher syndrome type 1 (ClinVar).

How is Usher syndrome inherited?

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

MYO7A p.Pro1909fs

c.5723_5724insTGTA · VCV4081747

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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 41 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.2	GERP 1.4, phastCons 1

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

Variant & gene context

Gene: MYO7A
Protein: p.Pro1909fs
Coding: c.5723_5724insTGTA
MANE Select: NM_000260
Type: Insertion
Location: chr11:77206183 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 1909: the ferm 2 domain; a turn

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.Phe1009_Gln1010insLeuHisProValVal Uncertain significance ★★ same condition
MYO7A p.Pro1909= Likely benign ★★ same residue
MYO7A p.Ala902fs Likely pathogenic ★ same condition
MYO7A p.Leu713fs Likely pathogenic ★ same condition
MYO7A p.Phe947fs Likely pathogenic ★ same condition
MYO7A p.Pro1909Ala Uncertain significance ★ ⚠ same residue
MYO7A p.Pro1909Leu Uncertain significance ★ ⚠ same residue
MYO7A p.Gln1690fs 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-pro1909fs (accessed [today's date]).

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