Submissions for variant NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)

gnomAD frequency: 0.00584  dbSNP: rs121908338

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172755	SCV000051395	benign	Primary dilated cardiomyopathy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham 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.
GeneDx	RCV000224167	SCV000170110	benign	not provided	2018-12-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 14662268, 26636822, 26419279, 28416588, 22929165, 23299917, 22995991, 22619057, 27884173, 27896284, 30293248, 30972196, 25214167)
Eurofins Ntd Llc (ga)	RCV000036845	SCV000230992	benign	not specified	2015-01-23	criteria provided, single submitter	clinical testing
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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234167	SCV000289629	benign	Myofibrillar myopathy 4	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036845	SCV000306367	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618022	SCV000735294	benign	Cardiovascular phenotype	2016-01-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000172755	SCV000995322	benign	Primary dilated cardiomyopathy	2017-02-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000004998	SCV001265379	uncertain significance	Dilated cardiomyopathy 1C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224167	SCV001471544	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000036845	SCV001476527	benign	not specified	2020-01-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224167	SCV004033061	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BS1, BS2
OMIM	RCV000004998	SCV000025174	uncertain significance	Dilated cardiomyopathy 1C	2003-12-03	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224167	SCV001740939	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036845	SCV001917870	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000036845	SCV001930144	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036845	SCV001951300	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224167	SCV001966188	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224167	SCV002036194	likely benign	not provided		no assertion criteria provided	clinical testing