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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2020
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:: RCV002069319.1

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:: Microspherophakia
Identifiers:: MedGen: C1562061; Human Phenotype Ontology: HP:0030961

Name:: Glaucoma 3, primary congenital, D
Identifiers:: MONDO: MONDO:0013122; MedGen: C2751316; Orphanet: 98976; OMIM: 613086

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
SCV002495828	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 29, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002495828

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 29, 2020)

germline

clinical testing

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	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV002495828.1

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

Description

LTBP2 NM_000428.2 exon 23 p.Asp1141Glu (c.3424C>A): This variant has not been reported in the literature but is present in 0.006% (1/15286) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/14-74508933-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:973342). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 5, 2025

ClinVar

Relating variation to medicine