Is EDA p.Val213fs (c.637_638del) pathogenic?

EDA p.Val213fs (c.637638del) is classified Pathogenic in EDA (ClinVar, Single submitter, 1 submitter; last evaluated 2026-04-21). Associated with ectodermal dysplasia syndrome.

What condition is associated with EDA p.Val213fs (c.637_638del)?

EDA p.Val213fs (c.637_638del) is associated with ectodermal dysplasia syndrome (ClinVar).

EDA p.Val213fs

c.637_638del · VCV4856974

Pathogenic Single submitter

Classification

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 in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 4 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 4.4, phastCons 1

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

Variant & gene context

Gene: EDA
Protein: p.Val213fs
Coding: c.637_638del
MANE Select: NM_001399
Type: Deletion
Location: chrX:70027966 (GRCh38)
Structure: AlphaFold pLDDT 70.59 · 3 PDB
Residue 213: the collagen-like domain; the 'disordered' region

Full EDA 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

EDA p.Arg156His Pathogenic ★★ same condition
EDA p.Arg276Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
EDA p.Arg289His Pathogenic/Likely pathogenic ★★ ⚠ same condition
EDA p.202_204IPG[1] Pathogenic/Likely pathogenic ★★ same type
EDA p.217_219PGP[1] Pathogenic ★★ same type
EDA p.Ala166fs Pathogenic ★★ same type
EDA p.Asn185_Pro196del Pathogenic ★★ same type
EDA p.Gly85fs 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/eda-p-val213fs (accessed [today's date]).

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