Is UNC79 p.Glu2017fs (c.6047_6048dup) pathogenic?

UNC79 p.Glu2017fs (c.60476048dup) is classified Likely pathogenic in UNC79 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-05-28). Associated with UNC79-related disorder.

What condition is associated with UNC79 p.Glu2017fs (c.6047_6048dup)?

UNC79 p.Glu2017fs (c.6047_6048dup) is associated with UNC79-related disorder (ClinVar).

UNC79 p.Glu2017fs

c.6047_6048dup · VCV4538265

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

UNC79-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.4	GERP 2.4, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: UNC79
Protein: p.Glu2017fs
Coding: c.6047_6048dup
MANE Select: NM_001395159
Type: Duplication
Location: chr14:93634634 (GRCh38)
Gene constraint: LOEUF 0.168 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 63.95 · 3 PDB

Full UNC79 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

UNC79-related disorder

Similar variants

UNC79 c.3190+3_3190+10dup Likely pathogenic ★ same condition
UNC79 p.Glu1848fs Pathogenic ★ same condition
UNC79 p.Ile1680Thr Uncertain significance ★★ same condition
UNC79 c.4107+1del Likely pathogenic ★ same condition
UNC79 p.Lys2255fs Likely pathogenic ★ same condition
UNC79 p.Trp255Ter Pathogenic ★ same condition
UNC79 c.1947-19_1947-5del Uncertain significance ★ same condition
UNC79 c.2211+1_2211+7delinsTTCTTGTCTTGCTTTTT 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/unc79-p-glu2017fs (accessed [today's date]).

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