NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 15, 2022
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:: RCV002381312.2

Allele description [Variation Report for NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)]

NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)

Gene:

LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)

HGVS:

NC_000010.11:g.86716434C>G
NG_008876.1:g.52871C>G
NM_001080114.2:c.1009C>G
NM_001171610.2:c.1354C>G
NM_001368064.1:c.1150C>G
NM_001368065.1:c.1150C>G
NM_001368066.1:c.1198C>G
NM_007078.3:c.1339C>GMANE SELECT
NP_001073583.1:p.Pro337Ala
NP_001165081.1:p.Pro452Ala
NP_001354993.1:p.Pro384Ala
NP_001354994.1:p.Pro384Ala
NP_001354995.1:p.Pro400Ala
NP_009009.1:p.Pro447Ala
LRG_385t1:c.1339C>G
LRG_385:g.52871C>G
NC_000010.10:g.88476191C>G
NM_007078.2:c.1339C>G
c.1339C>G

Protein change:

P337A

Links:

dbSNP: rs397517211

NCBI 1000 Genomes Browser:

rs397517211

Molecular consequence:

NM_001080114.2:c.1009C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171610.2:c.1354C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368064.1:c.1150C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368065.1:c.1150C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368066.1:c.1198C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007078.3:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002690404	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002690404

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 15, 2022)

germline

clinical testing

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

Citation Link

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

The Postmortem Interpretation of Cardiac Genetic Variants of Unknown Significance in Sudden Death in the Young: A Case Report and Review of the Literature.

Fadel S, Walker AE.

Acad Forensic Pathol. 2020 Dec;10(3-4):166-175. doi: 10.1177/1925362120984868. Epub 2021 Mar 17.

PubMed [citation]

PMID:: 33815637
PMCID:: PMC7975994

Details of each submission

From Ambry Genetics, SCV002690404.2

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

Description

The p.P447A variant (also known as c.1339C>G), located in coding exon 9 of the LDB3 gene, results from a C to G substitution at nucleotide position 1339. The proline at codon 447 is replaced by alanine, an amino acid with highly similar properties. This alteration was reported in a case of sudden unexplained death and was seen with variants in other cardiac-related genes (Fadel S et al. Acad Forensic Pathol, 2020 Dec;10:166-175). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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