EDA p.Gln197fs
c.589dup · VCV4721927
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
X-linked hypohidrotic ectodermal dysplasia
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 3.7 | GERP 2.7, phastCons 1 |
| Region caveats | ||
| Repeat context | tandem | (CCAGGACCC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EDA
- Protein
- p.Gln197fs
- Coding
- c.589dup
- MANE Select
- NM_001399
- Type
- Duplication
- Location
- chrX:70027915 (GRCh38)
- Structure
- AlphaFold pLDDT 70.59 · 3 PDB
- Residue 197
- the collagen-like domain; a UniProt-annotated variant site (in xhed); a UniProt-annotated variant site (in xhed; uncertain significance); the 'disordered' region
Disease context
X-linked hypohidrotic ectodermal dysplasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hypohidrotic ectodermal dysplasia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- EDA p.Gln197Lys Uncertain significance ★ ⚠ same residue
- EDA p.Cys25fs Pathogenic ★★ same condition
- EDA p.Gly201fs Pathogenic ★★ same condition
- EDA p.Ser110fs Pathogenic/Likely pathogenic ★★ same condition
- EDA p.Ser91fs Pathogenic ★★ same condition
- EDA c.396+4dup Pathogenic ★ same condition
- EDA p.Ala249fs Likely pathogenic ★ same condition
- EDA p.Ala34fs 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/eda-p-gln197fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown