ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.576G>A (p.Pro192=) (rs45543741)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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 RCV000586641 SCV000638670 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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 Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770144 SCV000901570 benign Cardiomyopathy 2017-09-26 criteria provided, single submitter clinical testing

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