Is UNC45B p.Ile70= (c.210C>A) pathogenic?

UNC45B p.Ile70= (c.210C>A) is classified Likely benign in UNC45B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-10-06). No allele count reported in gnomAD v4.1 (AN 1,601,188); Associated with UNC45B-related disorder.

What condition is associated with UNC45B p.Ile70= (c.210C>A)?

UNC45B p.Ile70= (c.210C>A) is associated with UNC45B-related disorder (ClinVar).

How common is UNC45B p.Ile70= (c.210C>A) in the general population?

UNC45B p.Ile70= (c.210C>A) is no allele count reported in gnomAD v4.1 (AN 1,601,188) (gnomAD).

UNC45B p.Ile70=

c.210C>A · rs373738527 · VCV3053744

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,601,188)

Conditions

UNC45B-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -8.6	GERP -3.4
Overall
CADD	2.523	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,601,188). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: UNC45B
Protein: p.Ile70=
Coding: c.210C>A
MANE Select: NM_001267052
dbSNP: rs373738527
Type: single nucleotide variant
Location: chr17:35150052 (GRCh38)
Gene constraint: LOEUF 0.969 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.38

Full UNC45B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

UNC45B-related disorder

Similar variants

UNC45B p.Arg752Gln Pathogenic ★★ same condition
UNC45B p.Ala597Thr Uncertain significance ★ ⚠ same condition
UNC45B p.Ala700Asp Uncertain significance ★ ⚠ same condition
UNC45B p.Leu538Phe Uncertain significance ★ ⚠ same condition
UNC45B p.Lys834Arg Uncertain significance ★ ⚠ same condition
UNC45B p.Ile331Asn Uncertain significance ⚠ same condition
UNC45B p.Arg434= Likely benign same condition
UNC45B p.Asp76Asn Likely benign 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/unc45b-p-ile70 (accessed [today's date]).

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