ClinVar Miner

Submissions for variant NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) (rs121908338)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618022 SCV000735294 benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000172755 SCV000051395 benign Primary dilated cardiomyopathy 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224167 SCV000281105 likely benign not provided 2016-04-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036845 SCV000230992 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000036845 SCV000170110 benign not specified 2013-07-10 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.
Invitae RCV000234167 SCV000289629 benign Myofibrillar myopathy, ZASP-related 2016-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036845 SCV000060500 benign not specified 2013-08-07 criteria provided, single submitter clinical testing Asp117Asn in exon 6 of LDB3: This variant is not expected to have clinical signi ficance because it has been identified in 1.3% (51/4090) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs121908338). It has been reported in 2 individu als with DCM and 1 individual with LVNC (Vatta 2002, Xi 2012). In vitro studies suggest that it may have functional consequences (Xi 2012), though it should be noted that in vitro studies may not accurately represent biological function and /or may not translate to disease. In summary, the frequency of this variant in the general population suggests that it does not cause disease on its own. It re mains possible that it modifies disease expression.
OMIM RCV000004998 SCV000025174 uncertain significance Dilated cardiomyopathy 1C 2003-12-03 no assertion criteria provided literature only
PreventionGenetics RCV000036845 SCV000306367 benign not specified criteria provided, single submitter clinical testing

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