Is MYO7A p.Glu1830fs (c.5488dup) pathogenic?

MYO7A p.Glu1830fs (c.5488dup) is classified Likely pathogenic in MYO7A (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-05-29). No gnomAD frequency available for this variant; Associated with MYO7A-related disorder.

What condition is associated with MYO7A p.Glu1830fs (c.5488dup)?

MYO7A p.Glu1830fs (c.5488dup) is associated with MYO7A-related disorder, Usher syndrome type 1, autosomal recessive nonsyndromic hearing loss 2 (ClinVar).

How common is MYO7A p.Glu1830fs (c.5488dup) in the general population?

MYO7A p.Glu1830fs (c.5488dup) is no gnomAD frequency available for this variant (gnomAD).

MYO7A p.Glu1830fs

c.5488dup · rs1555105135 · VCV553211

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

MYO7A-related disorder

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 40 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -6	GERP -2.5

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.Glu1830fs
Coding: c.5488dup
MANE Select: NM_000260
dbSNP: rs1555105135
Type: Duplication
Location: chr11:77205468 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 1830: the myth4 2 domain; an α-helix

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

Disease context

MYO7A-related disorder

Also linked: Usher syndrome type 1 autosomal recessive nonsyndromic hearing loss 2 Usher syndrome type 1B

Similar variants

MYO7A p.Glu1830Ter Likely pathogenic ★★ same residue
MYO7A p.Asp365fs Pathogenic ★★ same condition
MYO7A p.Gly1842fs Pathogenic ★★ same condition
MYO7A p.His133fs Pathogenic ★★ same condition
MYO7A p.Ile454fs Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Ile94fs Likely pathogenic ★★ same condition
MYO7A p.Leu1046fs Pathogenic ★★ same condition
MYO7A p.Lys1294fs Pathogenic/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-glu1830fs (accessed [today's date]).

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