Is COL7A1 p.Ala2824= (c.8472C>T) pathogenic?

COL7A1 p.Ala2824= (c.8472C>T) is classified Benign/Likely benign in COL7A1 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-05-01). Low-frequency (popmax 1.03%, afr); Associated with epidermolysis bullosa dystrophica.

What condition is associated with COL7A1 p.Ala2824= (c.8472C>T)?

COL7A1 p.Ala2824= (c.8472C>T) is associated with epidermolysis bullosa dystrophica (ClinVar).

How common is COL7A1 p.Ala2824= (c.8472C>T) in the general population?

COL7A1 p.Ala2824= (c.8472C>T) is low-frequency (popmax 1.03%, afr) (gnomAD).

COL7A1 p.Ala2824=

c.8472C>T · rs116591500 · VCV787786

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.03%, afr)

Conditions

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 -2.3	GERP -3.8
Overall
CADD	3.242	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.03% African / African-American · 772/75,028 alleles

Filtering AF 0.969% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.945%

Overall 0.0537% 867/1,613,236 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	1.03%	97
Remaining individualsnot grpmax-eligible	0.048%	2,082
Admixed American	0.0401%	2,495
South Asian	0.0044%	22,717
European (non-Finnish)	0.00314%	31,881

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.Ala2824=
Coding: c.8472C>T
MANE Select: NM_000094
dbSNP: rs116591500
Type: single nucleotide variant
Location: chr3:48565465 (GRCh38)
Gene constraint: LOEUF 0.69 · pLI <0.01 (gnomAD)
Residue 2824: the 'nonhelical region (nc2)' region

Full COL7A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

epidermolysis bullosa dystrophica — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

COL7A1 p.Ala2824Ser Uncertain significance ★ ⚠ same residue
COL7A1 p.Ala2824Val Uncertain significance ★ ⚠ 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-ala2824 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown