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NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter) AND Cutis laxa, autosomal recessive, type 1d

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003991511.1

Allele description [Variation Report for NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)]

NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)

Gene:
EFEMP1:EGF containing fibulin extracellular matrix protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.1
Genomic location:
Preferred name:
NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)
Other names:
FBLN3
HGVS:
  • NC_000002.12:g.55870839G>A
  • NG_009098.1:g.57959C>T
  • NM_001039348.3:c.1201C>TMANE SELECT
  • NM_001039349.3:c.1201C>T
  • NP_001034437.1:p.Arg401Ter
  • NP_001034438.1:p.Arg401Ter
  • NC_000002.11:g.56097974G>A
Protein change:
R401*; ARG401TER
Links:
OMIM: 601548.0008; dbSNP: rs2104369155
NCBI 1000 Genomes Browser:
rs2104369155
Molecular consequence:
  • NM_001039348.3:c.1201C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001039349.3:c.1201C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cutis laxa, autosomal recessive, type 1d
Identifiers:
MONDO: MONDO:0958335; MedGen: CN377272; OMIM: 620780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004809172OMIM
no assertion criteria provided
Pathogenic
(Apr 5, 2024)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.

Verlee M, Beyens A, Gezdirici A, Gulec EY, Pottie L, De Feyter S, Vanhooydonck M, Tapaneeyaphan P, Symoens S, Callewaert B.

Genes (Basel). 2021 Mar 31;12(4). doi:pii: 510. 10.3390/genes12040510.

PubMed [citation]
PMID:
33807164
PMCID:
PMC8066907

Details of each submission

From OMIM, SCV004809172.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 9-year-old Turkish boy with redundant skin, multiple abdominal herniae, and generalized joint hypermobility (ARCL1D; 620780), Verlee et al. (2021) identified homozygosity for a c.1201C-T transition (c.1201C-T, NM_001039348.3) in the EFEMP1 gene, resulting in an arg401-to-ter (R401X) substitution. The mutation segregated with disease in the family and was not found in the gnomAD database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024