MYO7A p.Met662del
c.1981ATG[1] · VCV3382178
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
autosomal recessive nonsyndromic hearing loss 2
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 -0.2 | GERP -3.5, phastCons 0.092 |
Variant & gene context
- Gene
- MYO7A
- Protein
- p.Met662del
- Coding
- c.1981ATG[1]
- MANE Select
- NM_000260
- Type
- Microsatellite
- Location
- chr11:77174801 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 662
- the myosin motor domain
Similar variants
- MYO7A p.Glu1716del Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Leu1293fs Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Phe1963del Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Ser423fs Likely pathogenic ★★ same condition
- MYO7A p.Trp47fs Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Val1501fs Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Arg1448del Uncertain significance ★★ same condition
- MYO7A p.Met662Leu Uncertain significance ★★ ⚠ same residue
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-met662del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown