Submissions for variant NM_007078.3(LDB3):c.1653C>T (p.Cys551=)

gnomAD frequency: 0.00096  dbSNP: rs45581435

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038740	SCV000062418	likely benign	not specified	2011-12-20	criteria provided, single submitter	clinical testing	Cys551Cys in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 7/7012 European Americ an and 1/3734 African American chromosomes by the NHBLI Exome sequencing project (http://evs.gs.washington.edu/EVS/; please note, this cohort contained individu als with heart disease). This variant is listed in dbSNP as not detected in seve ral populations (rs45581435). Cys551Cys in exon 12 of LDB3 (rs45581435, NHBLI Exome Seq Project; allele frequency = 7/7012)
Invitae	RCV000463163	SCV000557536	likely benign	Myofibrillar myopathy 4	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619334	SCV000735601	likely benign	Cardiovascular phenotype	2016-10-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770297	SCV000901729	likely benign	Cardiomyopathy	2016-06-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001642563	SCV001860584	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038740	SCV003928322	benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001642563	SCV004127015	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	LDB3: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003904931	SCV004722217	likely benign	LDB3-related condition	2019-11-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000038740	SCV001919394	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001642563	SCV001956964	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001642563	SCV001966512	likely benign	not provided		no assertion criteria provided	clinical testing