Is EFEMP2 p.Asp359fs (c.1070_1073dup) pathogenic?

EFEMP2 p.Asp359fs (c.10701073dup) is classified Pathogenic in EFEMP2 (ClinVar, No assertion criteria, 2 submitters; last evaluated 2007-11-15). Absent from gnomAD; Associated with cutis laxa, autosomal recessive, type 1B.

What condition is associated with EFEMP2 p.Asp359fs (c.1070_1073dup)?

EFEMP2 p.Asp359fs (c.1070_1073dup) is associated with cutis laxa, autosomal recessive, type 1B, cutis laxa, autosomal recessive, type 1A (ClinVar).

How common is EFEMP2 p.Asp359fs (c.1070_1073dup) in the general population?

EFEMP2 p.Asp359fs (c.1070_1073dup) is absent from gnomAD (gnomAD).

How is Autosomal recessive cutis laxa type 1 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

EFEMP2 p.Asp359fs

c.1070_1073dup · rs193302865 · VCV5425

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cutis laxa, autosomal recessive, type 1B

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 10 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -16	GERP -3.7

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: EFEMP2
Protein: p.Asp359fs
Coding: c.1070_1073dup
MANE Select: NM_016938
dbSNP: rs193302865
Type: Duplication
Location: chr11:65867957 (GRCh38)
Gene constraint: LOEUF 0.56 · pLI 0.62 (gnomAD)
Structure: AlphaFold pLDDT 82.95 · 1 PDB

Full EFEMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cutis laxa, autosomal recessive, type 1B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cutis laxa, autosomal recessive, type 1A

For Autosomal recessive cutis laxa type 1 (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

EFEMP2 p.Asp359= Likely benign ★ same residue
EFEMP2 p.Cys287fs Pathogenic/Likely pathogenic ★★ same condition
EFEMP2 p.Arg354fs Pathogenic ★ same condition
EFEMP2 p.Glu324Ter Pathogenic ★ same condition
EFEMP2 p.Gly371fs Likely pathogenic ★ same condition
EFEMP2 p.Pro318fs Pathogenic ★ same condition
EFEMP2 p.Pro98fs Pathogenic ★ same condition
EFEMP2 p.Tyr307fs 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/efemp2-p-asp359fs (accessed [today's date]).

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