MYO7A p.Gln706Ter
c.2116C>T · rs1954549039 · VCV834808
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
MYO7A-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 49 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Pangolin | Δ0.23 | loss · gain 0.01 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 38.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MYO7A
- Protein
- p.Gln706Ter
- Coding
- c.2116C>T
- MANE Select
- NM_000260
- dbSNP
- rs1954549039
- Type
- single nucleotide variant
- Location
- chr11:77175393 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 706
- the myosin motor domain
Disease context
MYO7A-related disorder
Similar variants
- MYO7A p.Gln706Arg Uncertain significance ★★ ⚠ same residue
- MYO7A c.133-2A>G Pathogenic ★★ same condition
- MYO7A c.1344-2A>G Pathogenic ★★ same condition
- MYO7A c.1690+1G>A Pathogenic/Likely pathogenic ★★ same condition
- MYO7A c.18+1G>A Pathogenic/Likely pathogenic ★★ same condition
- MYO7A c.19-1G>A Likely pathogenic ★★ same condition
- MYO7A c.2187+1G>A Pathogenic/Likely pathogenic ★★ same condition
- MYO7A c.2283-1G>A 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-gln706ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown