Submissions for variant NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)

gnomAD frequency: 0.00119  dbSNP: rs141541387

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037427	SCV000061084	benign	not specified	2022-03-14	criteria provided, single submitter	clinical testing	The p.Ile252Ser variant in LAMP2 is classified as benign because it has been identified in 0.18% (169/92563) of European chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx	RCV000037427	SCV000170071	benign	not specified	2013-08-15	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.
Eurofins Ntd Llc (ga)	RCV000037427	SCV000231651	likely benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243244	SCV000317764	benign	Cardiovascular phenotype	2017-05-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474311	SCV000560068	likely benign	Danon disease	2024-01-31	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037427	SCV000740590	likely benign	not specified	2017-02-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000474311	SCV001330067	benign	Danon disease	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000474311	SCV003799842	benign	Danon disease	2022-04-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486563	SCV004240712	benign	Cardiomyopathy	2022-11-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037427	SCV004242110	likely benign	not specified	2023-12-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000474311	SCV000734733	likely benign	Danon disease		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037427	SCV001921000	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705675	SCV001927998	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705675	SCV001955555	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037427	SCV001964252	benign	not specified		no assertion criteria provided	clinical testing