Is UNC80 p.Lys445fs (c.1334del) pathogenic?

UNC80 p.Lys445fs (c.1334del) is classified Likely pathogenic in UNC80 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-09-04). Associated with UNC80-related disorder.

What condition is associated with UNC80 p.Lys445fs (c.1334del)?

UNC80 p.Lys445fs (c.1334del) is associated with UNC80-related disorder (ClinVar).

UNC80 p.Lys445fs

c.1334del · VCV4959573

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

UNC80-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 65
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.4	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: UNC80
Protein: p.Lys445fs
Coding: c.1334del
MANE Select: NM_001371986
Type: Deletion
Location: chr2:209815386 (GRCh38)
Gene constraint: LOEUF 0.48 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)

Full UNC80 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

UNC80-related disorder

Similar variants

UNC80 p.Arg1179Ter Pathogenic/Likely pathogenic ★★ same condition
UNC80 p.Arg360Ter Pathogenic/Likely pathogenic ★★ same condition
UNC80 p.Arg811Ter Pathogenic/Likely pathogenic ★★ same condition
UNC80 p.Trp141Ter Pathogenic/Likely pathogenic ★★ same condition
UNC80 c.1962+1G>A Likely pathogenic ★ same condition
UNC80 p.Trp350Ter Likely pathogenic ★ same condition
UNC80 p.Val1585fs Likely pathogenic ★ same condition
UNC80 c.7050+1G>T Likely pathogenic 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/unc80-p-lys445fs (accessed [today's date]).

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