Is UNC80 p.Pro606fs (c.1817del) pathogenic?

UNC80 p.Pro606fs (c.1817del) is classified Pathogenic in UNC80 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-10). No gnomAD frequency available for this variant.

How common is UNC80 p.Pro606fs (c.1817del) in the general population?

UNC80 p.Pro606fs (c.1817del) is no gnomAD frequency available for this variant (gnomAD).

UNC80 p.Pro606fs

c.1817del · rs2470967977 · VCV2124055

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 12 of 65
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 1.9, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: UNC80
Protein: p.Pro606fs
Coding: c.1817del
MANE Select: NM_001371986
dbSNP: rs2470967977
Type: Deletion
Location: chr2:209819114 (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

Similar variants

UNC80 p.Pro606= Conflicting classifications of pathogenicity ★ same residue
UNC80 p.Pro606Leu Uncertain significance ★ ⚠ same residue
UNC80 p.Pro606Ser Uncertain significance ★ ⚠ same residue
UNC80 p.Arg453fs Pathogenic/Likely pathogenic ★★ same type
UNC80 p.Asn1522fs Pathogenic ★★ same type
UNC80 p.Lys2924fs Pathogenic ★★ same type
UNC80 p.Thr2567fs Pathogenic/Likely pathogenic ★★ same type
UNC80 p.Trp2900fs Pathogenic/Likely pathogenic ★★ same type

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-pro606fs (accessed [today's date]).

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