Is DOCK7 p.Tyr554fs (c.1660dup) pathogenic?

DOCK7 p.Tyr554fs (c.1660dup) is classified Pathogenic in DOCK7 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-25). Associated with developmental and epileptic encephalopathy, 23.

What condition is associated with DOCK7 p.Tyr554fs (c.1660dup)?

DOCK7 p.Tyr554fs (c.1660dup) is associated with developmental and epileptic encephalopathy, 23 (ClinVar).

DOCK7 p.Tyr554fs

c.1660dup · VCV3657718

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

developmental and epileptic encephalopathy, 23

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 14 of 50
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.5, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: DOCK7
Protein: p.Tyr554fs
Coding: c.1660dup
MANE Select: NM_001367561
Type: Duplication
Location: chr1:62618727 (GRCh38)
Gene constraint: LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.60 · 2 PDB

Full DOCK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

developmental and epileptic encephalopathy, 23 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DOCK7 p.Thr1547fs Pathogenic/Likely pathogenic ★★ same condition
DOCK7 c.1283-14dup Benign/Likely benign ★★ same condition
DOCK7 c.1872-9dup Benign/Likely benign ★★ same condition
DOCK7 c.2859+17dup Benign/Likely benign ★★ same condition
DOCK7 c.6381-6dup Benign/Likely benign ★★ same condition
DOCK7 p.Ala321fs Likely pathogenic ★ same condition
DOCK7 p.Asn1795fs Pathogenic ★ same condition
DOCK7 p.Asn2034fs 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/dock7-p-tyr554fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown