Is DOCK7 p.Ser1874fs (c.5619dup) pathogenic?

DOCK7 p.Ser1874fs (c.5619dup) is classified Pathogenic in DOCK7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-08-04). Absent from gnomAD; Associated with developmental and epileptic encephalopathy, 23.

What condition is associated with DOCK7 p.Ser1874fs (c.5619dup)?

DOCK7 p.Ser1874fs (c.5619dup) is associated with developmental and epileptic encephalopathy, 23 (ClinVar).

How common is DOCK7 p.Ser1874fs (c.5619dup) in the general population?

DOCK7 p.Ser1874fs (c.5619dup) is absent from gnomAD (gnomAD).

DOCK7 p.Ser1874fs

c.5619dup · rs2523768622 · VCV2054099

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 44 of 50
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.5, 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.Ser1874fs
Coding: c.5619dup
MANE Select: NM_001367561
dbSNP: rs2523768622
Type: Duplication
Location: chr1:62477714 (GRCh38)
Gene constraint: LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.60 · 2 PDB
Residue 1874: the docker domain; an α-helix

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-ser1874fs (accessed [today's date]).

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