Is DOCK7 p.Ser1054fs (c.3159del) pathogenic?

DOCK7 p.Ser1054fs (c.3159del) is classified Pathogenic in DOCK7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-11). Absent from gnomAD; Associated with developmental and epileptic encephalopathy, 23.

What condition is associated with DOCK7 p.Ser1054fs (c.3159del)?

DOCK7 p.Ser1054fs (c.3159del) is associated with developmental and epileptic encephalopathy, 23 (ClinVar).

How common is DOCK7 p.Ser1054fs (c.3159del) in the general population?

DOCK7 p.Ser1054fs (c.3159del) is absent from gnomAD (gnomAD).

DOCK7 p.Ser1054fs

c.3159del · rs2524782520 · VCV2810329

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 26 of 50
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.9	GERP 2.2, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DOCK7
Protein: p.Ser1054fs
Coding: c.3159del
MANE Select: NM_001367561
dbSNP: rs2524782520
Type: Deletion
Location: chr1:62539779 (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.Ser1054Asn Uncertain significance ★ ⚠ same residue
DOCK7 p.Phe1206fs Pathogenic/Likely pathogenic ★★ same condition
DOCK7 p.Met1284del Uncertain significance ★★ same condition
DOCK7 c.1283-14del Benign/Likely benign ★★ same condition
DOCK7 c.1872-9del Benign/Likely benign ★★ same condition
DOCK7 c.3781+15_3781+56del Benign/Likely benign ★★ same condition
DOCK7 c.3187-31_3274del Likely pathogenic ★ same condition
DOCK7 c.3937-686_4597del 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-ser1054fs (accessed [today's date]).

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