Is DOCK7 p.Pro2015= (c.6045C>T) pathogenic?

DOCK7 p.Pro2015= (c.6045C>T) is classified Benign/Likely benign in DOCK7 (ClinVar, Multiple submitters, 8 submitters; last evaluated 2025-12-24). Rare (popmax 0.25%, sas); Associated with developmental and epileptic encephalopathy, 23.

What condition is associated with DOCK7 p.Pro2015= (c.6045C>T)?

DOCK7 p.Pro2015= (c.6045C>T) is associated with developmental and epileptic encephalopathy, 23 (ClinVar).

How common is DOCK7 p.Pro2015= (c.6045C>T) in the general population?

DOCK7 p.Pro2015= (c.6045C>T) is rare (popmax 0.25%, sas) (gnomAD).

DOCK7 p.Pro2015=

c.6045C>T · rs202231787 · VCV475165

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

rare (popmax 0.25%, sas)

Conditions

developmental and epileptic encephalopathy, 23

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.036	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -2.6	GERP -5.4
Overall
CADD	4.644	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.25% South Asian · 228/91,062 alleles

Filtering AF 0.224% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.213%

Overall 0.0325% 524/1,613,950 alleles · rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.25%	399
European (non-Finnish)	0.0224%	4,469
Remaining individualsnot grpmax-eligible	0.0176%	5,681
Middle Eastern	0.0165%	6,062
Admixed American	0.0117%	8,569
African / African-American	0.00933%	10,717
Finnishnot grpmax-eligible	0.00625%	16,002
East Asian	0.00446%	22,438

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DOCK7
Protein: p.Pro2015=
Coding: c.6045C>T
MANE Select: NM_001367561
dbSNP: rs202231787
Type: single nucleotide variant
Location: chr1:62475268 (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 2015: the docker 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 c.4924-1G>A Pathogenic/Likely pathogenic ★★ same condition
DOCK7 p.Arg1380Ter Pathogenic ★★ same condition
DOCK7 p.Arg1415Ter Pathogenic/Likely pathogenic ★★ same condition
DOCK7 p.Arg429Ter Pathogenic/Likely pathogenic ★★ same condition
DOCK7 p.Arg445Ter Pathogenic/Likely pathogenic ★★ same condition
DOCK7 c.3781+4C>G Uncertain significance ★★ same condition
DOCK7 c.38+6T>C Uncertain significance ★★ same condition
DOCK7 p.Ala1479Thr 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-pro2015 (accessed [today's date]).

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