MYO7A p.Arg814fs
c.2440dup · rs2135472044 · VCV1068826
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 7.477e-07)
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 21 of 49 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 0.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.48e-05%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- MYO7A
- Protein
- p.Arg814fs
- Coding
- c.2440dup
- MANE Select
- NM_000260
- dbSNP
- rs2135472044
- Type
- Duplication
- Location
- chr11:77179804 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 814
- the iq 4 domain
Similar variants
- MYO7A p.Arg814His Uncertain significance ★★ ⚠ same residue
- MYO7A p.Arg814= Likely benign ★ same residue
- MYO7A p.Asp365fs Pathogenic ★★ same type
- MYO7A p.Cys453fs Pathogenic/Likely pathogenic ★★ same type
- MYO7A p.Glu1830fs Likely pathogenic ★★ same type
- MYO7A p.Gly1842fs Pathogenic ★★ same type
- MYO7A p.His133fs Pathogenic ★★ same type
- MYO7A p.Ile454fs Pathogenic/Likely pathogenic ★★ same type
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-arg814fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown