ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) (rs45610637)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154432 SCV000204100 likely benign not specified 2014-04-09 criteria provided, single submitter clinical testing Arg165Trp in exon 4 of LDB3: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , at least 7 mammals have a tryptophan (Trp) at this position. Additionally, it has been identified in 1/8592 European American chromosomes by the NHLBI Exome S equencing Project ( and in 1/38 Asian chromoso mes from the Coriell Cell Repository (dbSNP rs45610637).
GeneDx RCV000154432 SCV000235978 likely benign not specified 2016-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000621354 SCV000736730 uncertain significance Cardiovascular phenotype 2016-12-07 criteria provided, single submitter clinical testing The p.R165W variant (also known as c.493C>T), located in coding exon 4 of the LDB3 gene, results from a C to T substitution at nucleotide position 493. The arginine at codon 165 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from ExAC, the T allele has an overall frequency of approximately 0.026% (27/101974) total alleles studied. The highest observed frequency was 0.286% (22/7689) of East Asian alleles. This amino acid position is not well conserved in available vertebrate species, and tryptophan is the reference amino acid in other 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.
Invitae RCV000861221 SCV001001478 benign Myofibrillar myopathy, ZASP-related 2020-11-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171121 SCV001333801 benign Cardiomyopathy 2019-02-13 criteria provided, single submitter clinical testing

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