Is MYO7A p.Lys693fs (c.2077_2078delinsT) pathogenic?

MYO7A p.Lys693fs (c.20772078delinsT) is classified Likely pathogenic in MYO7A (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-04). Ultra-rare (gnomAD MAF 7.138e-07); Associated with Usher syndrome type 1.

What condition is associated with MYO7A p.Lys693fs (c.2077_2078delinsT)?

MYO7A p.Lys693fs (c.2077_2078delinsT) is associated with Usher syndrome type 1 (ClinVar).

How common is MYO7A p.Lys693fs (c.2077_2078delinsT) in the general population?

MYO7A p.Lys693fs (c.2077_2078delinsT) is ultra-rare (gnomAD MAF 7.138e-07) (gnomAD).

How is Usher syndrome inherited?

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

MYO7A p.Lys693fs

c.2077_2078delinsT · rs2497079129 · VCV1725871

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

ultra-rare (gnomAD MAF 7.138e-07)

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 17 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 0.59, phastCons 1

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

Population frequency

dbSNP / gnomAD

Global frequency 7.14e-05% via dbSNP · ultra-rare

No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.

Variant & gene context

Gene: MYO7A
Protein: p.Lys693fs
Coding: c.2077_2078delinsT
MANE Select: NM_000260
dbSNP: rs2497079129
Type: Indel
Location: chr11:77174897 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 693: 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 c.1798-7_1800delinsATCGGCTGCT Pathogenic/Likely pathogenic ★★ same condition
MYO7A c.3503+1_3503+12delinsC Likely pathogenic ★★ same condition
MYO7A p.Arg336fs Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Glu1515_Met1517delinsAla Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Gly1191fs 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-lys693fs (accessed [today's date]).

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