Is MYO7A p.Asp1910fs (c.5729_5735del) pathogenic?

MYO7A p.Asp1910fs (c.57295735del) is classified Pathogenic in MYO7A (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-23).

MYO7A p.Asp1910fs

c.5729_5735del · VCV3676114

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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 8.7	GERP -1.4, phastCons 1

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

Variant & gene context

Gene: MYO7A
Protein: p.Asp1910fs
Coding: c.5729_5735del
MANE Select: NM_000260
Type: Deletion
Location: chr11:77206189 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 1910: the ferm 2 domain; a turn

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

Similar variants

MYO7A p.Asp1910Glu Uncertain significance ★★ ⚠ same residue
MYO7A c.3503+12_3503+33del Benign ★★★ same type
MYO7A c.2187+2_2187+8del Pathogenic/Likely pathogenic ★★ same type
MYO7A c.2283-2_2293del Pathogenic/Likely pathogenic ★★ same type
MYO7A c.5471_5480+5del Pathogenic/Likely pathogenic ★★ same type
MYO7A p.Ala1277fs Pathogenic/Likely pathogenic ★★ same type
MYO7A p.Ala2009fs Pathogenic ★★ same type
MYO7A p.Ala202fs Pathogenic/Likely pathogenic ★★ same type

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-asp1910fs (accessed [today's date]).

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