Is DOCK6 p.Arg429fs (c.1282_1285dup) pathogenic?

DOCK6 p.Arg429fs (c.12821285dup) is classified Pathogenic in DOCK6 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-24). Absent from gnomAD.

How common is DOCK6 p.Arg429fs (c.1282_1285dup) in the general population?

DOCK6 p.Arg429fs (c.1282_1285dup) is absent from gnomAD (gnomAD).

DOCK6 p.Arg429fs

c.1282_1285dup · rs2513156379 · VCV2108027

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

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 12 of 48
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.7	GERP 1.8, 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: DOCK6
Protein: p.Arg429fs
Coding: c.1282_1285dup
MANE Select: NM_020812
dbSNP: rs2513156379
Type: Duplication
Location: chr19:11243358 (GRCh38)
Gene constraint: LOEUF 0.87 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.78 · 7 PDB
Residue 429: the 'disordered' region

Full DOCK6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DOCK6 c.2815-37_2815-17dup Benign/Likely benign ★★ same type
DOCK6 c.4022-2dup Benign ★★ same type
DOCK6 p.Cys1892fs Pathogenic ★ same type
DOCK6 p.Glu28fs Likely pathogenic ★ same type
DOCK6 p.Gly962fs Pathogenic ★ same type
DOCK6 p.His34fs Likely pathogenic ★ same type
DOCK6 p.His810fs Pathogenic ★ same type
DOCK6 p.Ile792fs Pathogenic ★ same type

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/dock6-p-arg429fs (accessed [today's date]).

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