Is MYO7A p.Cys1198fs (c.3591_3592del) pathogenic?

MYO7A p.Cys1198fs (c.35913592del) is classified Pathogenic/Likely pathogenic in MYO7A (ClinVar, Multiple submitters, 4 submitters; last evaluated 2023-03-27). No gnomAD frequency available for this variant; Associated with Rare genetic deafness.

What condition is associated with MYO7A p.Cys1198fs (c.3591_3592del)?

MYO7A p.Cys1198fs (c.3591_3592del) is associated with Rare genetic deafness, Usher syndrome (ClinVar).

How common is MYO7A p.Cys1198fs (c.3591_3592del) in the general population?

MYO7A p.Cys1198fs (c.3591_3592del) is no gnomAD frequency available for this variant (gnomAD).

MYO7A p.Cys1198fs

c.3591_3592del · rs1555090368 · VCV228378

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Rare genetic deafness

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 28 of 49
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.92	GERP 0.64, 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.Cys1198fs
Coding: c.3591_3592del
MANE Select: NM_000260
dbSNP: rs1555090368
Type: Microsatellite
Location: chr11:77189426 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB
Residue 1198: the myth4 1 domain

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

Disease context

Rare genetic deafness — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Usher syndrome

Similar variants

MYO7A p.Cys1198Ter Pathogenic ★★ same residue
MYO7A p.Glu1716del Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Cys1198= Conflicting classifications of pathogenicity ★ same residue
MYO7A p.Ala1288Pro Likely pathogenic ★★★ same condition
MYO7A p.Arg1168Gln Pathogenic ★★★ ⚠ same condition
MYO7A p.Arg1873Gln Pathogenic ★★★ ⚠ same condition
MYO7A p.Arg668Cys Pathogenic ★★★ same condition
MYO7A p.Gly2187Asp 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-cys1198fs (accessed [today's date]).

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