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

gnomAD frequency: 0.00054  dbSNP: rs45539535

Total submissions: 13

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, Mass General Brigham 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	RCV000172556	SCV000235986	likely benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19412328)
Invitae	RCV001079419	SCV000638659	likely benign	Myofibrillar myopathy 4	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619589	SCV000736995	likely benign	Cardiovascular phenotype	2018-06-08	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	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038719	SCV004029037	likely benign	not specified	2023-07-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924934	SCV004740616	likely benign	LDB3-related disorder	2020-06-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000172556	SCV001922276	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172556	SCV001931535	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172556	SCV001958933	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172556	SCV001966649	likely benign	not provided		no assertion criteria provided	clinical testing