Submissions for variant NM_007078.3(LDB3):c.794G>A (p.Arg265His)

gnomAD frequency: 0.00011  dbSNP: rs45458895

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183529	SCV000235996	likely benign	not provided	2019-04-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622255	SCV000735402	likely benign	Cardiovascular phenotype	2022-05-26	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769279	SCV000900657	uncertain significance	Cardiomyopathy	2016-03-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000183529	SCV001502622	uncertain significance	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Loeys Lab, Universiteit Antwerpen	RCV001375640	SCV001572565	uncertain significance	Primary dilated cardiomyopathy	2021-02-26	criteria provided, single submitter	clinical testing	This sequence change results in a missense variant in the LDB3 gene (p.(Arg333His)). This variant is present in population databases with a prevalence of 36/282804 in GnomAD (BS1) . This variant has not been reported in the literature and no functional data are available. Prediction programs show conflicting results (Align GVGD: C0; Polyphen-2-HumDiv: possibly damaging ; Polyphen-2-HumVar: benign; SIFT: tolerated; MutationTaster: disease causing). The variant affects a highly conserved nucleotide and a moderately conserved amino acid. We identified this variant in a patients with DCM. In conclusion this variant was classified as a variant of unknown significance according to ACMG-guidelines (insufficient data, criteria for other classification are not met: BS1).
Invitae	RCV001434419	SCV001637225	likely benign	Myofibrillar myopathy 4	2022-09-28	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000183529	SCV003816498	uncertain significance	not provided	2022-03-11	criteria provided, single submitter	clinical testing
KardioGenetik, Herz- und Diabeteszentrum NRW	RCV003502522	SCV004363568	uncertain significance	Dilated cardiomyopathy 1C	2024-01-29	criteria provided, single submitter	clinical testing