Is UNC93B1 p.Pro571= (c.1713T>C) pathogenic?

UNC93B1 p.Pro571= (c.1713T>C) is classified Benign in UNC93B1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-24). Low-frequency (popmax 2.13%, sas); Associated with herpes simplex encephalitis, susceptibility to, 1.

What condition is associated with UNC93B1 p.Pro571= (c.1713T>C)?

UNC93B1 p.Pro571= (c.1713T>C) is associated with herpes simplex encephalitis, susceptibility to, 1 (ClinVar).

How common is UNC93B1 p.Pro571= (c.1713T>C) in the general population?

UNC93B1 p.Pro571= (c.1713T>C) is low-frequency (popmax 2.13%, sas) (gnomAD).

UNC93B1 p.Pro571=

c.1713T>C · rs565846179 · VCV1168665

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.13%, sas)

Conditions

herpes simplex encephalitis, susceptibility to, 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -11
Overall
CADD	0.335	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.13% South Asian · 1,711/80,302 alleles

Filtering AF 2.05% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.01%

Overall 0.138% 2,080/1,504,952 alleles · low-frequency exomes 1,922/1,352,802 · genomes 158/152,150 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	2.13%	47
Middle Eastern	0.283%	354
Remaining individualsnot grpmax-eligible	0.183%	547
Ashkenazi Jewishnot grpmax-eligible	0.0664%	1,507
Admixed American	0.0284%	3,520
European (non-Finnish)	0.0188%	5,308
African / African-American	0.00575%	17,397
East Asian	0.00258%	38,750

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: UNC93B1
Protein: p.Pro571=
Coding: c.1713T>C
MANE Select: NM_030930
dbSNP: rs565846179
Type: single nucleotide variant
Location: chr11:67991627 (GRCh38)
Gene constraint: LOEUF 1.059 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.12 · 2 PDB
Residue 571: the 'disordered' region

Full UNC93B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

herpes simplex encephalitis, susceptibility to, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

UNC93B1 c.1090-5C>A Uncertain significance ★★ same condition
UNC93B1 c.1363+4A>C Uncertain significance ★★ same condition
UNC93B1 p.Ala13Thr Uncertain significance ★★ ⚠ same condition
UNC93B1 p.Ala214Pro Uncertain significance ★★ ⚠ same condition
UNC93B1 p.Ala214Thr Uncertain significance ★★ ⚠ same condition
UNC93B1 p.Ala214Val Uncertain significance ★★ ⚠ same condition
UNC93B1 p.Ala233Thr Uncertain significance ★★ ⚠ same condition
UNC93B1 p.Arg157His 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/unc93b1-p-pro571 (accessed [today's date]).

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