Is EPB41 p.Lys273fs (c.818del) pathogenic?

EPB41 p.Lys273fs (c.818del) is classified Likely pathogenic in EPB41 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-12). Associated with elliptocytosis 1.

What condition is associated with EPB41 p.Lys273fs (c.818del)?

EPB41 p.Lys273fs (c.818del) is associated with elliptocytosis 1 (ClinVar).

How is Hereditary elliptocytosis inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

EPB41 p.Lys273fs

c.818del · VCV4081367

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

elliptocytosis 1

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 5 of 21
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 2.8, phastCons 1

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

Variant & gene context

Gene: EPB41
Protein: p.Lys273fs
Coding: c.818del
MANE Select: NM_001376013
Type: Deletion
Location: chr1:29011891 (GRCh38)
Gene constraint: LOEUF 0.738 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 63.72 · 3 PDB
Residue 273: the ferm domain; an α-helix

Full EPB41 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

elliptocytosis 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hereditary elliptocytosis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: All ages
Prevalence: 1-5 / 10 000 (Worldwide)

Similar variants

EPB41 c.1464-1del Likely pathogenic ★ same condition
EPB41 p.Gln675fs Likely pathogenic ★ same condition
EPB41 p.Glu248fs Pathogenic ★ same condition
EPB41 p.Lys392fs Likely pathogenic ★ same condition
EPB41 p.Phe432fs Likely pathogenic ★ same condition
EPB41 p.Val696fs Likely pathogenic ★ same condition
EPB41 p.Gly726del Uncertain significance ★ same condition
EPB41 c.1219_1458del 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/epb41-p-lys273fs (accessed [today's date]).

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