Is EDAR p.Ser362fs (c.1084dup) pathogenic?

EDAR p.Ser362fs (c.1084dup) is classified Likely pathogenic in EDAR (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-27). Associated with ectodermal dysplasia syndrome.

What condition is associated with EDAR p.Ser362fs (c.1084dup)?

EDAR p.Ser362fs (c.1084dup) is associated with ectodermal dysplasia syndrome (ClinVar).

EDAR p.Ser362fs

c.1084dup · VCV4539015

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

ectodermal dysplasia syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (12 of 12) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1

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

Variant & gene context

Gene: EDAR
Protein: p.Ser362fs
Coding: c.1084dup
MANE Select: NM_022336
Type: Duplication
Location: chr2:108897169 (GRCh38)
Gene constraint: LOEUF 0.927 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 67.01 · 1 PDB
Residue 362: the death domain

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

Disease context

ectodermal dysplasia syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

EDAR c.52-25_52-8del Likely pathogenic ★ same condition
EDAR c.529+1G>A Pathogenic ★ same condition
EDAR p.Cys113Tyr Likely pathogenic ★ same condition
EDAR p.Leu377Pro Conflicting classifications of pathogenicity ★ ⚠ same condition
EDAR c.803+1G>A Pathogenic same condition
EDAR p.Asn276fs Likely pathogenic ★ same type
EDAR p.Asn365fs Pathogenic ★ same type
EDAR p.Met391fs 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/edar-p-ser362fs (accessed [today's date]).

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