Is EDAR p.Glu354Ter (c.1060G>T) pathogenic?

EDAR p.Glu354Ter (c.1060G>T) is classified Pathogenic in EDAR (ClinVar, No assertion criteria, 1 submitter; last evaluated 2008-06-01). No allele count reported in gnomAD v4.1 (AN 1,613,728); Associated with Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant.

What condition is associated with EDAR p.Glu354Ter (c.1060G>T)?

EDAR p.Glu354Ter (c.1060G>T) is associated with Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant (ClinVar).

How common is EDAR p.Glu354Ter (c.1060G>T) in the general population?

EDAR p.Glu354Ter (c.1060G>T) is no allele count reported in gnomAD v4.1 (AN 1,613,728) (gnomAD).

EDAR p.Glu354Ter

c.1060G>T · rs121908456 · VCV5857

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,613,728)

Conditions

Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 7.6	GERP 1.9, phastCons 1
Overall
CADD	44.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,613,728). 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: EDAR
Protein: p.Glu354Ter
Coding: c.1060G>T
MANE Select: NM_006267 · reported on NM_022336
dbSNP: rs121908456
Type: single nucleotide variant
Location: chr2:108897194 (GRCh38)

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

Disease context

Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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-glu354ter (accessed [today's date]).

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