ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) (rs45539535)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172556 SCV000051396 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038719 SCV000062397 likely benign not specified 2016-04-20 criteria provided, single submitter clinical testing p.Ala371Thr in exon 11 of LDB3: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, multiple mammals (rabbit, white rhinoceros, black flying fox, megabat, cape golden mole) have a threonine (Thr) at this position despite high nearby amino acid conservation. Computational prediction tools do not suggest a high likeliho od of impact to the protein. In addition, this variant has been identified in 63 /64062 European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs45539535).
GeneDx RCV000038719 SCV000235986 likely benign not specified 2017-03-13 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 RCV000172556 SCV000638659 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619589 SCV000736995 likely benign Cardiovascular phenotype 2016-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038719 SCV000740594 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769287 SCV000900665 uncertain significance Cardiomyopathy 2015-09-17 criteria provided, single submitter clinical testing

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