Submissions for variant NM_002294.3(LAMP2):c.1093+2514G>A

gnomAD frequency: 0.00404  dbSNP: rs144140265

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038789	SCV000062467	likely benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing	p.Val391Ile in exon 9B of LAMP2: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (294/47993) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs144140265).
GeneDx	RCV000038789	SCV000170073	benign	not specified	2012-04-30	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230647	SCV000287341	benign	Danon disease	2024-01-22	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000431687	SCV000510645	benign	not provided	2016-09-20	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000038789	SCV000740587	likely benign	not specified	2016-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000431687	SCV001150435	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326744	SCV002629809	benign	Cardiovascular phenotype	2017-10-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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 Genetics, Royal Melbourne Hospital	RCV000230647	SCV004812745	likely benign	Danon disease	2023-10-06	criteria provided, single submitter	clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000038789	SCV000280173	benign	not specified	2011-03-28	no assertion criteria provided	clinical testing	Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000230647	SCV000734730	likely benign	Danon disease		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000431687	SCV000801129	benign	not provided	2017-08-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038789	SCV001920354	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000431687	SCV001932061	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038789	SCV001958632	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038789	SCV001966336	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003125866	SCV003803625	likely benign	Hypertrophic cardiomyopathy	2022-09-29	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924937	SCV004743661	benign	LAMP2-related disorder	2019-05-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).