DOCK7 p.Val1510fs
c.4527del · VCV3348003
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
DOCK7-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 36 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DOCK7
- Protein
- p.Val1510fs
- Coding
- c.4527del
- MANE Select
- NM_001367561
- Type
- Deletion
- Location
- chr1:62505766 (GRCh38)
- Gene constraint
- LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.60 · 2 PDB
Disease context
DOCK7-related disorder
Similar variants
- DOCK7 p.Gly2027fs Likely pathogenic ★ same condition
- DOCK7 p.Met1925fs Likely pathogenic ★ same condition
- DOCK7 p.Val1510Met Uncertain significance ★ ⚠ same residue
- DOCK7 c.38+2T>A Likely pathogenic ★ same condition
- DOCK7 p.Arg1123Ter Likely pathogenic ★ same condition
- DOCK7 p.Leu564Pro Uncertain significance ⚠ same condition
- DOCK7 c.1801-1544A>T Likely benign same condition
- DOCK7 p.Phe1206fs 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/dock7-p-val1510fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown