Is UNC79 p.Glu627fs (c.1879del) pathogenic?

UNC79 p.Glu627fs (c.1879del) is classified Pathogenic in UNC79 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-15). Associated with Inborn genetic diseases.

What condition is associated with UNC79 p.Glu627fs (c.1879del)?

UNC79 p.Glu627fs (c.1879del) is associated with Inborn genetic diseases (ClinVar).

UNC79 p.Glu627fs

c.1879del · VCV3813609

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Inborn genetic diseases

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 7.7	GERP 1.8, phastCons 1

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

Variant & gene context

Gene: UNC79
Protein: p.Glu627fs
Coding: c.1879del
MANE Select: NM_001395159
Type: Deletion
Location: chr14:93572016 (GRCh38)
Gene constraint: LOEUF 0.168 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 63.95 · 3 PDB
Residue 627: an α-helix

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

UNC79 p.Asp2363fs Likely pathogenic ★ same condition
UNC79 p.Pro2467Arg Uncertain significance ★★ same condition
UNC79 p.Thr2409Met Uncertain significance ★★ same condition
UNC79 p.Tyr539Phe Uncertain significance ★★ same condition
UNC79 c.6134-1G>A Likely pathogenic ★ same condition
UNC79 p.Gln1343Ter Pathogenic ★ same condition
UNC79 p.Lys251Ter Pathogenic ★ same condition
UNC79 p.Ala1041Thr 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-glu627fs (accessed [today's date]).

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