Is UNC79 p.Pro266Ser (c.796C>T) pathogenic?

UNC79 p.Pro266Ser (c.796C>T) is classified Uncertain significance in UNC79 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-06). Very rare (popmax 0.00398%, nfe); Associated with Inborn genetic diseases.

What condition is associated with UNC79 p.Pro266Ser (c.796C>T)?

UNC79 p.Pro266Ser (c.796C>T) is associated with Inborn genetic diseases (ClinVar).

How common is UNC79 p.Pro266Ser (c.796C>T) in the general population?

UNC79 p.Pro266Ser (c.796C>T) is very rare (popmax 0.00398%, nfe) (gnomAD).

UNC79 p.Pro266Ser

c.796C>T · rs761723945 · VCV2511695

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00398%, nfe)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.256	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.7	GERP 1.6, phastCons 1
Overall
CADD	25.9	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00398% European (non-Finnish) · 47/1,179,916 alleles

Filtering AF 0.00307% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00275%

Overall 0.00322% 52/1,613,120 alleles · very rare exomes 46/1,460,970 · genomes 6/152,150 · joint denominator

Ancestry group	Frequency	1 in
Remaining individualsnot grpmax-eligible	0.0048%	20,813
European (non-Finnish)grpmax	0.00398%	25,105
African / African-American	0.00267%	37,439

Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: UNC79
Protein: p.Pro266Ser
Coding: c.796C>T
MANE Select: NM_001395159
dbSNP: rs761723945
Type: single nucleotide variant
Location: chr14:93497184 (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-pro266ser (accessed [today's date]).

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