Is DOCK8 p.Ala13= (c.39G>T) pathogenic?

DOCK8 p.Ala13= (c.39G>T) is classified Uncertain significance in DOCK8 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-12). Very rare (popmax 0.0017%, amr); Associated with DOCK8-related disorder.

What condition is associated with DOCK8 p.Ala13= (c.39G>T)?

DOCK8 p.Ala13= (c.39G>T) is associated with DOCK8-related disorder (ClinVar).

How common is DOCK8 p.Ala13= (c.39G>T) in the general population?

DOCK8 p.Ala13= (c.39G>T) is very rare (popmax 0.0017%, amr) (gnomAD).

DOCK8 p.Ala13=

c.39G>T · rs773286453 · VCV2628382

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.0017%, amr)

Conditions

DOCK8-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.171	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.8	GERP -1.1, phastCons 1
Overall
CADD	16.62	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0017% Admixed American · 1/58,716 alleles

Overall 6.28e-05% 1/1,591,170 alleles · very rare exomes 1/1,438,912 · genomes 0/152,258 · joint denominator

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: DOCK8
Protein: p.Ala13=
Coding: c.39G>T
MANE Select: NM_203447
dbSNP: rs773286453
Type: single nucleotide variant
Location: chr9:215015 (GRCh38)
Gene constraint: LOEUF 0.622 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.17

Full DOCK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DOCK8-related disorder

Similar variants

DOCK8 p.Ala13Pro Uncertain significance ★★ ⚠ same residue
DOCK8 p.Ala13Thr Uncertain significance ★ ⚠ same residue
DOCK8 c.528+1G>A Likely pathogenic ★★ same condition
DOCK8 p.Arg1796Ter Pathogenic ★★ same condition
DOCK8 p.Arg1406Gln Uncertain significance ★★ ⚠ same condition
DOCK8 c.4154-1G>C Likely pathogenic ★ same condition
DOCK8 c.54-1G>T Conflicting classifications of pathogenicity ★ same condition
DOCK8 c.5580+3A>G Conflicting classifications of pathogenicity ★ 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/dock8-p-ala13 (accessed [today's date]).

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