Submissions for variant NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)

gnomAD frequency: 0.00080  dbSNP: rs138951890

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171997	SCV000051399	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038736	SCV000062414	likely benign	not specified	2018-02-02	criteria provided, single submitter	clinical testing	p.Gln512Pro in exon 12 of LDB3: This variant is not expected to have clinical si gnificance because it has been identified in 0.29% of Finnish chromosomes by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org; dbSNP rs 138951890). Computational tools predict that this variant impacts protein functi on but this evidence is insufficient to override the high minor allele frequency . ACMG/AMP Criteria applied: BS1, PP3
GeneDx	RCV000171997	SCV000236004	benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780, 27896284, 20474083, 23861362, 17097056, 30847666)
Invitae	RCV000988403	SCV000581399	likely benign	Myofibrillar myopathy 4	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000171997	SCV000700770	uncertain significance	not provided	2017-03-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619692	SCV000737327	likely benign	Cardiovascular phenotype	2019-04-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000623075	SCV000740593	uncertain significance	Primary familial dilated cardiomyopathy	2016-08-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000988403	SCV001138108	benign	Myofibrillar myopathy 4	2023-08-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000171997	SCV001150626	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	LDB3: BP4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170178	SCV001332728	benign	Cardiomyopathy	2018-01-22	criteria provided, single submitter	clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV001293341	SCV001481929	likely benign	Dilated cardiomyopathy 1C	2014-08-16	no assertion criteria provided	case-control