Is MYO7A p.Ala601fs (c.1801_1802insTCGTCCCCCCAGGG) pathogenic?

MYO7A p.Ala601fs (c.18011802insTCGTCCCCCCAGGG) is classified Likely pathogenic in MYO7A (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-18). Associated with Usher syndrome type 1B.

What condition is associated with MYO7A p.Ala601fs (c.1801_1802insTCGTCCCCCCAGGG)?

MYO7A p.Ala601fs (c.1801_1802insTCGTCCCCCCAGGG) is associated with Usher syndrome type 1B (ClinVar).

MYO7A p.Ala601fs

c.1801_1802insTCGTCCCCCCAGGG · VCV4818016

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Usher syndrome type 1B

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 16 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.38	GERP -3.5, phastCons 0.084

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

Variant & gene context

Gene: MYO7A
Protein: p.Ala601fs
Coding: c.1801_1802insTCGTCCCCCCAGGG
MANE Select: NM_000260
Type: Microsatellite
Location: chr11:77172750 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 601: the myosin motor domain

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

Disease context

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

Similar variants

MYO7A p.Ala601Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
MYO7A p.Glu1716del Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Phe1963del Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Ser423fs Likely pathogenic ★★ same condition
MYO7A p.Val1501fs Pathogenic/Likely pathogenic ★★ same condition
MYO7A c.3924+31_3924+46del Benign/Likely benign ★★ same condition
MYO7A p.Ala601= Likely benign ★★ same residue
MYO7A p.Thr54fs 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-ala601fs (accessed [today's date]).

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