Is UNC45A p.Val920= (c.2760C>T) pathogenic?

UNC45A p.Val920= (c.2760C>T) is classified Likely benign in UNC45A (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-18). Ultra-rare (popmax 0.0253%, afr).

How common is UNC45A p.Val920= (c.2760C>T) in the general population?

UNC45A p.Val920= (c.2760C>T) is ultra-rare (popmax 0.0253%, afr) (gnomAD).

UNC45A p.Val920=

c.2760C>T · rs373992406 · VCV2413252

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0253%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.12	GERP -3.8
Overall
CADD	4.727	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0253% African / African-American · 19/75,042 alleles

Filtering AF 0.0165% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0137%

Overall 0.0013% 21/1,614,116 alleles · ultra-rare exomes 10/1,461,816 · genomes 11/152,300 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0253%	3,950
Remaining individualsnot grpmax-eligible	0.0016%	62,506
South Asian	0.0011%	91,088

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: UNC45A
Protein: p.Val920=
Coding: c.2760C>T
MANE Select: NM_018671
dbSNP: rs373992406
Type: single nucleotide variant
Location: chr15:90953641 (GRCh38)

Full UNC45A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/unc45a-p-val920 (accessed [today's date]).

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