MYO7A p.Phe647fs
c.1938del · VCV3381810
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
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 17 of 49 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MYO7A
- Protein
- p.Phe647fs
- Coding
- c.1938del
- MANE Select
- NM_000260
- Type
- Deletion
- Location
- chr11:77174758 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 647
- the myosin motor domain
Similar variants
- MYO7A p.Ala1277fs Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Ala2009fs Pathogenic ★★ same condition
- MYO7A p.Asn769fs Pathogenic ★★ same condition
- MYO7A p.Asp1613fs Pathogenic ★★ same condition
- MYO7A p.Asp521fs Pathogenic ★★ same condition
- MYO7A p.Gln1395fs Pathogenic/Likely pathogenic ★★ same condition
- MYO7A p.Gln2066fs Pathogenic ★★ same condition
- MYO7A p.Glu166fs 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-phe647fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown