COL7A1 p.Leu730=
c.2190G>A · rs1340677606 · VCV2973884
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 11.65 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- COL7A1
- Protein
- p.Leu730=
- Coding
- c.2190G>A
- MANE Select
- NM_000094
- dbSNP
- rs1340677606
- Type
- single nucleotide variant
- Location
- chr3:48589451 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 730
- the 'nonhelical region (nc1)' region; the fibronectin type-iii 6 domain
Similar variants
- COL7A1 p.Leu730Phe Uncertain significance ★ ⚠ same residue
- COL7A1 c.1240+1G>T Likely pathogenic ★★ same type
- COL7A1 c.1637-1G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.1906+1G>T Likely pathogenic ★★ same type
- COL7A1 c.2171-2A>G Likely pathogenic ★★ same type
- COL7A1 c.2587+1G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.2587+40G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.266+1G>A Pathogenic/Likely 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/col7a1-p-leu730 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown