EDA p.Gly107fs
c.318_320delinsAAGCA · VCV3346640
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
EDA-related disorder
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 1 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EDA
- Protein
- p.Gly107fs
- Coding
- c.318_320delinsAAGCA
- MANE Select
- NM_001399
- Type
- Indel
- Location
- chrX:69616626 (GRCh38)
- Structure
- AlphaFold pLDDT 70.59 · 3 PDB
- Residue 107
- the 'disordered' region
Disease context
EDA-related disorder
Similar variants
- EDA p.Gly233fs Likely pathogenic ★ same condition
- EDA p.Gly107= Likely benign ★ same residue
- EDA c.526+2T>C Pathogenic/Likely pathogenic ★★ same condition
- EDA c.526+5G>T Likely pathogenic ★★ same condition
- EDA c.742-2A>G Pathogenic/Likely pathogenic ★★ same condition
- EDA p.217_219PGP[1] Pathogenic ★★ same condition
- EDA p.Arg153Cys Pathogenic ★★ ⚠ same condition
- EDA p.Arg276Leu Pathogenic/Likely 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-gly107fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown