Is UNC79 p.Val887= (c.2661G>C) pathogenic?

UNC79 p.Val887= (c.2661G>C) is classified Uncertain significance in UNC79 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-06). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with UNC79 p.Val887= (c.2661G>C)?

UNC79 p.Val887= (c.2661G>C) is associated with Inborn genetic diseases (ClinVar).

How common is UNC79 p.Val887= (c.2661G>C) in the general population?

UNC79 p.Val887= (c.2661G>C) is absent from gnomAD v4.1 (gnomAD).

UNC79 p.Val887=

c.2661G>C · VCV4840330

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.63	donor loss · deltas
Pangolin	Δ0.67	loss · gain 0.02 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 12	GERP 2.5, phastCons 1
Overall
CADD	20.2	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: UNC79
Protein: p.Val887=
Coding: c.2661G>C
MANE Select: NM_001395159
Type: single nucleotide variant
Location: chr14:93580376 (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

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

Similar variants

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
UNC79 p.Ala1063Ser 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-val887 (accessed [today's date]).

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