Is DOCK7 p.Pro703fs (c.2106_2107dup) pathogenic?

DOCK7 p.Pro703fs (c.21062107dup) is classified Pathogenic in DOCK7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-27). No gnomAD frequency available for this variant; Associated with developmental and epileptic encephalopathy, 23.

What condition is associated with DOCK7 p.Pro703fs (c.2106_2107dup)?

DOCK7 p.Pro703fs (c.2106_2107dup) is associated with developmental and epileptic encephalopathy, 23 (ClinVar).

How common is DOCK7 p.Pro703fs (c.2106_2107dup) in the general population?

DOCK7 p.Pro703fs (c.2106_2107dup) is no gnomAD frequency available for this variant (gnomAD).

DOCK7 p.Pro703fs

c.2106_2107dup · rs2149480897 · VCV1455206

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 18 of 50
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	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.Pro703fs
Coding: c.2106_2107dup
MANE Select: NM_001367561
dbSNP: rs2149480897
Type: Microsatellite
Location: chr1:62577266 (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 703: the c2 dock-type domain

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.Glu148fs Pathogenic/Likely pathogenic ★★ same condition
DOCK7 c.3612-18CTT[2] Likely benign ★★ same condition
DOCK7 p.Met1448fs Pathogenic ★ same condition
DOCK7 p.Pro1946fs Pathogenic ★ same condition
DOCK7 p.Lys10del Uncertain significance ★ same condition
DOCK7 p.Pro703Thr Uncertain significance ★ ⚠ same residue
DOCK7 p.Ser12del Uncertain significance ★ same condition
DOCK7 p.Ser864del Uncertain significance ★ 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-pro703fs (accessed [today's date]).

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