NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 2024
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:
RCV004020223.1

Allele description [Variation Report for NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)]

NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)

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.91C>T (p.Arg31Trp)
Other names:
p.R31W:CGG>TGG
HGVS:
  • NC_000010.11:g.86668782C>T
  • NG_008876.1:g.5219C>T
  • NM_001080114.2:c.91C>T
  • NM_001080115.2:c.91C>T
  • NM_001080116.1:c.91C>T
  • NM_001171610.2:c.91C>T
  • NM_001171611.2:c.91C>T
  • NM_001368063.1:c.91C>T
  • NM_001368064.1:c.91C>T
  • NM_001368065.1:c.91C>T
  • NM_001368066.1:c.91C>T
  • NM_001368067.1:c.91C>T
  • NM_001368068.1:c.91C>T
  • NM_007078.3:c.91C>TMANE SELECT
  • NP_001073583.1:p.Arg31Trp
  • NP_001073584.1:p.Arg31Trp
  • NP_001073585.1:p.Arg31Trp
  • NP_001165081.1:p.Arg31Trp
  • NP_001165082.1:p.Arg31Trp
  • NP_001354992.1:p.Arg31Trp
  • NP_001354993.1:p.Arg31Trp
  • NP_001354994.1:p.Arg31Trp
  • NP_001354995.1:p.Arg31Trp
  • NP_001354996.1:p.Arg31Trp
  • NP_001354997.1:p.Arg31Trp
  • NP_009009.1:p.Arg31Trp
  • LRG_385t1:c.91C>T
  • LRG_385t2:c.91C>T
  • LRG_385:g.5219C>T
  • LRG_385p2:p.Arg31Trp
  • NC_000010.10:g.88428539C>T
  • NM_007078.2:c.91C>T
  • p.(Arg31Trp)
Protein change:
R31W
Links:
dbSNP: rs367792378
NCBI 1000 Genomes Browser:
rs367792378
Molecular consequence:
  • NM_001080114.2:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080115.2:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080116.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171611.2:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368063.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368067.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368068.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005025583Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 25, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T, Kuiperi C, Breckpot J, Devriendt K, Souche E, Van Cleemput J, Willems R, Nuyens D, Matthijs G, Corveleyn A.

Eur J Hum Genet. 2017 Dec;25(12):1313-1323. doi: 10.1038/s41431-017-0004-3. Epub 2017 Oct 10.

PubMed [citation]
PMID:
29255176
PMCID:
PMC5865127

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.

Boen HM, Loeys BL, Alaerts M, Saenen JB, Goovaerts I, Van Laer L, Vorlat A, Vermeulen T, Franssen C, Pauwels P, Rodrigus I, Heidbuchel H, Van Craenenbroeck EM.

J Heart Lung Transplant. 2022 Sep;41(9):1218-1227. doi: 10.1016/j.healun.2022.03.020. Epub 2022 Apr 9.

PubMed [citation]
PMID:
35581137
PMCID:
PMC9512016

Details of each submission

From Ambry Genetics, SCV005025583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.R31W variant (also known as c.91C>T), located in coding exon 1 of the LDB3 gene, results from a C to T substitution at nucleotide position 91. The arginine at codon 31 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in cardiomyopathy cohorts; however, clinical details were limited and additional alterations in other cardiac-related genes were identified (Robyns T et al. Eur J Hum Genet, 2017 Dec;25:1313-1323; Boen HM et al. J Heart Lung Transplant, 2022 Sep;41:1218-1227). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024