Is COL7A1 p.Ser1209fs (c.3625_3635del) pathogenic?

COL7A1 p.Ser1209fs (c.36253635del) is classified Pathogenic in COL7A1 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-08-15). Absent from gnomAD; Associated with nonsyndromic congenital nail disorder 8.

What condition is associated with COL7A1 p.Ser1209fs (c.3625_3635del)?

COL7A1 p.Ser1209fs (c.3625_3635del) is associated with nonsyndromic congenital nail disorder 8, epidermolysis bullosa dystrophica, transient bullous dermolysis of the newborn (ClinVar).

How common is COL7A1 p.Ser1209fs (c.3625_3635del) in the general population?

COL7A1 p.Ser1209fs (c.3625_3635del) is absent from gnomAD (gnomAD).

COL7A1 p.Ser1209fs

c.3625_3635del · rs1166683325 · VCV2203378

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

nonsyndromic congenital nail disorder 8

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 28 of 119
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP -1.8, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: COL7A1
Protein: p.Ser1209fs
Coding: c.3625_3635del
MANE Select: NM_000094
dbSNP: rs1166683325
Type: Deletion
Location: chr3:48586162 (GRCh38)
Gene constraint: LOEUF 0.69 · pLI <0.01 (gnomAD)
Residue 1209: the vwfa 2 domain; the 'nonhelical region (nc1)' region

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

Disease context

nonsyndromic congenital nail disorder 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: epidermolysis bullosa dystrophica transient bullous dermolysis of the newborn generalized dominant dystrophic epidermolysis bullosa pretibial dystrophic epidermolysis bullosa epidermolysis bullosa with congenital localized absence of skin and deformity of nails recessive dystrophic epidermolysis bullosa dystrophic epidermolysis bullosa pruriginosa

Similar variants

COL7A1 c.3832_3833del Pathogenic/Likely pathogenic ★★ same condition
COL7A1 c.4199del Pathogenic/Likely pathogenic ★★ same condition
COL7A1 c.4519-2del Likely pathogenic ★★ same condition
COL7A1 c.5304_5307+1del Pathogenic/Likely pathogenic ★★ same condition
COL7A1 c.5389-2_5389-1del Likely pathogenic ★★ same condition
COL7A1 c.5772+1del Pathogenic ★★ same condition
COL7A1 c.6349-2del Likely pathogenic ★★ same condition
COL7A1 c.6751-2_6751-1del 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-ser1209fs (accessed [today's date]).

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