Is DOCK7 p.Ala1551= (c.4653T>C) pathogenic?

DOCK7 p.Ala1551= (c.4653T>C) is classified Likely benign in DOCK7 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2025-11-19). Ultra-rare (popmax 0.0633%, amr); Associated with developmental and epileptic encephalopathy, 23.

What condition is associated with DOCK7 p.Ala1551= (c.4653T>C)?

DOCK7 p.Ala1551= (c.4653T>C) is associated with developmental and epileptic encephalopathy, 23 (ClinVar).

How common is DOCK7 p.Ala1551= (c.4653T>C) in the general population?

DOCK7 p.Ala1551= (c.4653T>C) is ultra-rare (popmax 0.0633%, amr) (gnomAD).

DOCK7 p.Ala1551=

c.4653T>C · rs150922364 · VCV475151

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0633%, amr)

Conditions

developmental and epileptic encephalopathy, 23

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -7.5	GERP -5.5
Overall
CADD	0.397	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0633% Admixed American · 38/60,026 alleles

Filtering AF 0.0474% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0418%

Overall 0.0223% 360/1,614,160 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0633%	1,580
European (non-Finnish)	0.0263%	3,806
Remaining individualsnot grpmax-eligible	0.0112%	8,929
African / African-American	0.00666%	15,012

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.Ala1551=
Coding: c.4653T>C
MANE Select: NM_001367561
dbSNP: rs150922364
Type: single nucleotide variant
Location: chr1:62504741 (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 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-ala1551 (accessed [today's date]).

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