Is DOCK6 p.Val17fs (c.49del) pathogenic?

DOCK6 p.Val17fs (c.49del) is classified Pathogenic in DOCK6 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-21). Absent from gnomAD.

How common is DOCK6 p.Val17fs (c.49del) in the general population?

DOCK6 p.Val17fs (c.49del) is absent from gnomAD (gnomAD).

DOCK6 p.Val17fs

c.49del · rs2513214903 · VCV2023705

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 2 of 48
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.4, 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.Val17fs
Coding: c.49del
MANE Select: NM_020812
dbSNP: rs2513214903
Type: Deletion
Location: chr19:11253722 (GRCh38)
Gene constraint: LOEUF 0.87 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.78 · 7 PDB

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

Similar variants

DOCK6 p.Ala211fs Pathogenic/Likely pathogenic ★★ same type
DOCK6 p.Cys1061fs Pathogenic/Likely pathogenic ★★ same type
DOCK6 p.Leu1064fs Pathogenic ★★ same type
DOCK6 p.Ser1249fs Pathogenic/Likely pathogenic ★★ same type
DOCK6 p.Thr455fs Pathogenic/Likely pathogenic ★★ same type
DOCK6 p.Leu2037del Uncertain significance ★★ same type
DOCK6 c.5939+12del Benign/Likely benign ★★ same type
DOCK6 c.5235+1_5235+7del Likely 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-val17fs (accessed [today's date]).

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