DOCK7 p.His1223fs
c.3663_3664del · VCV3336883
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 30 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 1.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DOCK7
- Protein
- p.His1223fs
- Coding
- c.3663_3664del
- MANE Select
- NM_001367561
- Type
- Deletion
- Location
- chr1:62529394 (GRCh38)
- Gene constraint
- LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.60 · 2 PDB
Similar variants
- DOCK7 p.His1223= Likely benign ★★ same residue
- DOCK7 p.Phe1206fs Pathogenic/Likely pathogenic ★★ same type
- DOCK7 p.Met1284del Uncertain significance ★★ same type
- DOCK7 c.1283-14del Benign/Likely benign ★★ same type
- DOCK7 c.1683-51_1683-50del Benign ★★ same type
- DOCK7 c.1872-9del Benign/Likely benign ★★ same type
- DOCK7 c.2113-38del Benign ★★ same type
- DOCK7 c.3781+15_3781+56del Benign/Likely benign ★★ 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-his1223fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown