NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) AND Weill-Marchesani syndrome 3

Germline classification:: Uncertain significance (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001249842.1

Allele description [Variation Report for NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)]

NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)

Gene:

LTBP2:latent transforming growth factor beta binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)

HGVS:

NC_000014.9:g.74508933G>T
NG_021486.1:g.108399C>A
NM_000428.3:c.3423C>AMANE SELECT
NP_000419.1:p.Asp1141Glu
NC_000014.8:g.74975636G>T
NM_000428.2:c.3423C>A

Protein change:

D1141E

Links:

dbSNP: rs745791013

Molecular consequence:

NM_000428.3:c.3423C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Weill-Marchesani syndrome 3 (WMS3)
Synonyms:: Weill-Marchesani syndrome 3, recessive
Identifiers:: MONDO: MONDO:0013899; MedGen: C3553785; Orphanet: 3449; OMIM: 614819

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423860	UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001423860

UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2, SCV001423860.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

LTBP2 c.3423C>A [p.D1141E] is a missense variant that changes a single amino acid from an aspartic acid to a glutamic acid. This is a rare variant present in population databases at low allele frequency (gnomAD); however this variant has not been previously reported in association with eye disorders and is of uncertain clinical significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 5, 2025

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