Is MYO7A p.Phe947fs (c.2839_2840insGTATAAGAGACAG) pathogenic?

MYO7A p.Phe947fs (c.28392840insGTATAAGAGACAG) is classified Likely pathogenic in MYO7A (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-14). No gnomAD frequency available for this variant; Associated with Usher syndrome type 1.

What condition is associated with MYO7A p.Phe947fs (c.2839_2840insGTATAAGAGACAG)?

MYO7A p.Phe947fs (c.2839_2840insGTATAAGAGACAG) is associated with Usher syndrome type 1 (ClinVar).

How common is MYO7A p.Phe947fs (c.2839_2840insGTATAAGAGACAG) in the general population?

MYO7A p.Phe947fs (c.2839_2840insGTATAAGAGACAG) 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.Phe947fs

c.2839_2840insGTATAAGAGACAG · rs2497205388 · VCV1725219

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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 23 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.2	GERP 1.8, 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.Phe947fs
Coding: c.2839_2840insGTATAAGAGACAG
MANE Select: NM_000260
dbSNP: rs2497205388
Type: Insertion
Location: chr11:77181524 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB

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.Ala902fs Likely pathogenic ★ same condition
MYO7A p.Leu713fs Likely pathogenic ★ same condition
MYO7A p.Pro1909fs Pathogenic ★ same condition
MYO7A p.Gln1690fs Pathogenic same condition
MYO7A p.Ala1288Pro Likely pathogenic ★★★ same condition
MYO7A p.Arg1168Gln Pathogenic ★★★ ⚠ same condition
MYO7A p.Arg1873Gln 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-phe947fs (accessed [today's date]).

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