NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) AND Pseudoexfoliation glaucoma

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Jan 6, 2020
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:: RCV000114805.6

Allele description [Variation Report for NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)]

NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)

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.1295C>T (p.Pro432Leu)

HGVS:

NC_000014.9:g.74552291G>A
NG_021486.1:g.65041C>T
NM_000428.3:c.1295C>TMANE SELECT
NP_000419.1:p.Pro432Leu
NC_000014.8:g.75018994G>A
NM_000428.2:c.1295C>T

Protein change:

P432L

Links:

dbSNP: rs137854861

Molecular consequence:

NM_000428.3:c.1295C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pseudoexfoliation glaucoma (XFS)
Synonyms:: EXFOLIATION GLAUCOMA; PSEUDOEXFOLIATION OF THE LENS; PSEUDOEXFOLIATION SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008327; MedGen: C0206368; OMIM: 177650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148700	Elahi Laboratory, University of Tehran	no assertion criteria provided	Likely pathogenic	unknown	not provided
SCV001142442	Reproductive Health Research and Development, BGI Genomics	no assertion criteria provided	Uncertain significance (Jan 6, 2020)	germline	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148700

Elahi Laboratory, University of Tehran

no assertion criteria provided

Likely pathogenic

unknown

not provided

SCV001142442

Reproductive Health Research and Development, BGI Genomics

no assertion criteria provided

Uncertain significance
(Jan 6, 2020)

germline

curation

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	curation
not provided	not provided	not provided	not provided	not provided	not provided	2	not provided	literature only

Details of each submission

From Elahi Laboratory, University of Tehran, SCV000148700.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission from probable-pathogenic to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

From Reproductive Health Research and Development, BGI Genomics, SCV001142442.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

NM_000428.2:c.1295C>T in the LTBP2 gene has an allele frequency of 0.008 in South Asian subpopulation in the gnomAD database. The c.1295C>T (p.Pro432Leu) variant has been observed in a patient affected with pseudoexfoliation glaucoma (PEXG) syndrome (PMID: 23401661). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP4.

#	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: Jun 20, 2026

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