Submissions for variant NM_007078.3(LDB3):c.576G>A (p.Pro192=)

dbSNP: rs45543741

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038760	SCV000062438	benign	not specified	2010-06-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000038760	SCV000235980	benign	not specified	2014-09-12	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	RCV001083453	SCV000638670	benign	Myofibrillar myopathy 4	2024-01-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586641	SCV000698755	benign	not provided	2016-04-18	criteria provided, single submitter	clinical testing	Variant summary: The c.576G>A variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. 5/5 in silico programs via Alamut predict that this variant does not affect normal splicing. This variant is found in 87/119636 control chromosomes from the large and broad populations of ExAC at a frequency of 0.0007272, which is about 29 times greater than the maximal expected frequency of a pathogenic allele (0.000025), suggesting this variant is benign. In addition, multiple clinical laboratories have classified this variant as benign. One internal sample carrying this variant was also found to carry a pathogenic variant in TTR gene (p.V142I) further supporting benign outcome. Taken together, this variant has been classified as Benign.
Ambry Genetics	RCV000621522	SCV000736627	likely benign	Cardiovascular phenotype	2016-06-27	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	RCV000770144	SCV000901570	benign	Cardiomyopathy	2017-09-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000586641	SCV001473853	benign	not provided	2020-01-16	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038760	SCV001921218	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000586641	SCV001973623	likely benign	not provided		no assertion criteria provided	clinical testing