Is COL7A1 p.Ser47= (c.141A>C) pathogenic?

COL7A1 p.Ser47= (c.141A>C) is classified Uncertain significance in COL7A1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2025-02-17). Absent from gnomAD v4.1; Associated with epidermolysis bullosa dystrophica.

What condition is associated with COL7A1 p.Ser47= (c.141A>C)?

COL7A1 p.Ser47= (c.141A>C) is associated with epidermolysis bullosa dystrophica (ClinVar).

How common is COL7A1 p.Ser47= (c.141A>C) in the general population?

COL7A1 p.Ser47= (c.141A>C) is absent from gnomAD v4.1 (gnomAD).

COL7A1 p.Ser47=

c.141A>C · VCV4065247

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

epidermolysis bullosa dystrophica

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · T>A here scores Δ0.37 · evaluated, not missing
Constraint at this position
Conservation	phyloP -5.2	GERP -4
Overall
CADD	9.956	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.Ser47=
Coding: c.141A>C
MANE Select: NM_000094
Type: single nucleotide variant
Location: chr3:48594493 (GRCh38)
Gene constraint: LOEUF 0.69 · pLI <0.01 (gnomAD)
Residue 47: the 'nonhelical region (nc1)' region; the vwfa 1 domain

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.Ser47fs Pathogenic/Likely pathogenic ★★ same residue
COL7A1 p.Ser47Leu 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-ser47 (accessed [today's date]).

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