Is EPO p.Pro7fs (c.20del) pathogenic?

EPO p.Pro7fs (c.20del) is classified Pathogenic in EPO (ClinVar, No assertion criteria, 1 submitter; last evaluated 2018-03-16). Absent from gnomAD; Associated with erythrocytosis, familial, 5.

What condition is associated with EPO p.Pro7fs (c.20del)?

EPO p.Pro7fs (c.20del) is associated with erythrocytosis, familial, 5 (ClinVar).

How common is EPO p.Pro7fs (c.20del) in the general population?

EPO p.Pro7fs (c.20del) is absent from gnomAD (gnomAD).

EPO p.Pro7fs

c.20del · rs1554393458 · VCV496594

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

erythrocytosis, familial, 5

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.6	GERP -2.5

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: EPO
Protein: p.Pro7fs
Coding: c.20del
MANE Select: NM_003254 · reported on NM_000799
dbSNP: rs1554393458
Type: Deletion
Location: chr7:100721563 (GRCh38)
Structure: AlphaFold pLDDT 90.09 · 13 PDB

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

Disease context

erythrocytosis, familial, 5 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

EPO p.Pro7Ser Uncertain significance ★ ⚠ same residue
EPO p.Trp11fs Pathogenic same condition
EPO c.246+23_246+24del Likely benign ★★ same type
EPO c.246+24del Benign/Likely benign ★★ same type
EPO c.-152_-131del Uncertain significance ★ same type
EPO c.247-142_247-136del Benign ★ same type
EPO c.*8del Likely benign 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/epo-p-pro7fs (accessed [today's date]).

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