COL7A1 p.Ala1503=
c.4509G>A · rs748294033 · VCV345846
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00534%, afr)
Conditions
1
epidermolysis bullosa dystrophica
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.8 | GERP -4.5 |
| Overall | ||
| CADD | 5.408 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00534%
African / African-American · 4/74,848 alleles
Filtering AF
0.00175%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00104%
Overall
0.00173%
28/1,613,874 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00534% | 18,712 |
| East Asian | 0.00223% | 44,886 |
| South Asian | 0.0022% | 45,539 |
| European (non-Finnish) | 0.00169% | 58,999 |
| Admixed American | 0.00167% | 59,982 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- COL7A1
- Protein
- p.Ala1503=
- Coding
- c.4509G>A
- MANE Select
- NM_000094
- dbSNP
- rs748294033
- Type
- single nucleotide variant
- Location
- chr3:48583022 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 1503
- the 'disordered' region; the 'triple-helical region' region
Similar variants
- COL7A1 p.Ala1503fs Pathogenic/Likely pathogenic ★★ same residue
- COL7A1 p.Ala1503Val Benign/Likely benign ★★ same residue
- COL7A1 c.1637-1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2587+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2587+40G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.266+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2710+2T>C Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2992+2T>G 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-ala1503 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown