Is LAMC2 p.Arg95fs (c.284del) pathogenic?

LAMC2 p.Arg95fs (c.284del) is classified Likely pathogenic in LAMC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-23). Associated with epidermolysis bullosa, junctional 3B, severe.

What condition is associated with LAMC2 p.Arg95fs (c.284del)?

LAMC2 p.Arg95fs (c.284del) is associated with epidermolysis bullosa, junctional 3B, severe, epidermolysis bullosa, junctional 3A, intermediate (ClinVar).

LAMC2 p.Arg95fs

c.284del · VCV3574538

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

epidermolysis bullosa, junctional 3B, severe

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 3 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.79	GERP -0.97

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

Variant & gene context

Gene: LAMC2
Protein: p.Arg95fs
Coding: c.284del
MANE Select: NM_005562
Type: Deletion
Location: chr1:183215468 (GRCh38)
Gene constraint: LOEUF 0.797 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 72.89
Residue 95: the laminin egf-like 2 domain

Full LAMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

epidermolysis bullosa, junctional 3B, severe — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: epidermolysis bullosa, junctional 3A, intermediate

Similar variants

LAMC2 p.Arg95Ter Pathogenic ★★ same residue
LAMC2 p.Arg45fs Pathogenic/Likely pathogenic ★★ same condition
LAMC2 p.Ile669fs Pathogenic/Likely pathogenic ★★ same condition
LAMC2 p.Lys594fs Pathogenic ★★ same condition
LAMC2 c.2220+1_2220+2del Likely pathogenic ★ same condition
LAMC2 p.Ala761fs Likely pathogenic ★ same condition
LAMC2 p.Gln1151fs Likely pathogenic ★ same condition
LAMC2 p.Gln911fs Likely 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/lamc2-p-arg95fs (accessed [today's date]).

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