Is MYO7A c.133del pathogenic?

MYO7A c.133del is classified Likely pathogenic in MYO7A (ClinVar, Single submitter, 2 submitters; last evaluated 2023-02-03). No gnomAD frequency available for this variant; Associated with autosomal dominant nonsyndromic hearing loss 11.

What condition is associated with MYO7A c.133del?

MYO7A c.133del is associated with autosomal dominant nonsyndromic hearing loss 11 (ClinVar).

How common is MYO7A c.133del in the general population?

MYO7A c.133del is no gnomAD frequency available for this variant (gnomAD).

MYO7A c.133del

rs1591224147 · VCV800972

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

autosomal dominant nonsyndromic hearing loss 11

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.8, phastCons 1
Non-coding constraint	Z 2.38	1 kb window · o/e 0.85 · regional · uncalibrated

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
Coding: c.133del
MANE Select: NM_000260
dbSNP: rs1591224147
Type: Deletion
Location: chr11:77147797 (GRCh38)
Gene constraint: LOEUF 0.995 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.73 · 1 PDB

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

Disease context

autosomal dominant nonsyndromic hearing loss 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MYO7A c.3503+12_3503+33del Benign ★★★ same condition
MYO7A c.2187+2_2187+8del Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Ala1277fs Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Ala2009fs Pathogenic ★★ same condition
MYO7A p.Ala202fs Pathogenic/Likely pathogenic ★★ same condition
MYO7A p.Asp2076fs Pathogenic ★★ same condition
MYO7A p.Asp521fs Pathogenic ★★ same condition
MYO7A p.Gly1547_Leu1548insTer 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-c-133del (accessed [today's date]).

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