COL7A1 p.Gln656fs
c.1967del · VCV4817359
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
epidermolysis bullosa dystrophica
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 16 of 119 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -3, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COL7A1
- Protein
- p.Gln656fs
- Coding
- c.1967del
- MANE Select
- NM_000094
- Type
- Deletion
- Location
- chr3:48590296 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 656
- the 'nonhelical region (nc1)' region; the fibronectin type-iii 5 domain
Similar variants
- COL7A1 c.3832_3833del Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.4519-2del Likely pathogenic ★★ same condition
- COL7A1 c.5389-2_5389-1del Likely pathogenic ★★ same condition
- COL7A1 c.5772+1del Pathogenic ★★ same condition
- COL7A1 p.Ala121fs Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 p.Ala1503fs Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 p.Ala1517fs Pathogenic ★★ same condition
- COL7A1 p.Ala2903fs 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/col7a1-p-gln656fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown