U.S. flag

An official website of the United States government

NM_007078.3(LDB3):c.1703G>A (p.Arg568His) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 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:
RCV001090046.4

Allele description [Variation Report for NM_007078.3(LDB3):c.1703G>A (p.Arg568His)]

NM_007078.3(LDB3):c.1703G>A (p.Arg568His)

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.1703G>A (p.Arg568His)
HGVS:
  • NC_000010.11:g.86717990G>A
  • NG_008876.1:g.54427G>A
  • NM_001080114.2:c.1373G>A
  • NM_001171610.2:c.1718G>A
  • NM_001368064.1:c.1514G>A
  • NM_001368065.1:c.1514G>A
  • NM_001368066.1:c.1562G>A
  • NM_007078.3:c.1703G>AMANE SELECT
  • NP_001073583.1:p.Arg458His
  • NP_001165081.1:p.Arg573His
  • NP_001354993.1:p.Arg505His
  • NP_001354994.1:p.Arg505His
  • NP_001354995.1:p.Arg521His
  • NP_009009.1:p.Arg568His
  • LRG_385t1:c.1703G>A
  • LRG_385:g.54427G>A
  • NC_000010.10:g.88477747G>A
  • NM_001171610.1:c.1718G>A
  • NM_007078.2:c.1703G>A
Protein change:
R458H
Links:
dbSNP: rs769156627
NCBI 1000 Genomes Browser:
rs769156627
Molecular consequence:
  • NM_001080114.2:c.1373G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.1718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.1562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.1703G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001238759Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 23, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical 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 Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology, SCV001238759.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The c.1703G>A variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS). It is present in Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency (MAF<0.0001), in heterozygous state. The variant is not present in our in-house exome database.The variant was reported earlier to ClinVar as uncertain significance, in association with myofibrillar myopathy (ClinVar Accession: VCV000464286.1). The variant is present in a highly conserved region and in-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. However there are no documented studies to prove this. Due to lack of enough evidence the variant has been classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024