ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) (rs141541387)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037427 SCV000061084 likely benign not specified 2012-03-09 criteria provided, single submitter clinical testing p.Ile252Ser in exon 6 of LAMP2: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence and ha s been identified in 0.3% (16/5545) of European American chromosomes from a broa d population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS; dbSNP rs141541387). In addition, pathogenic missense variants in LAMP2 are exceedingly rare. Ile252Ser in exon 6 of LAMP2 (rs141541387; allele frequency = 0.3%, 16/5545) **
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000474311 SCV000560068 likely benign Danon disease 2019-12-31 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
Ambry Genetics RCV000719059 SCV000849923 benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000474311 SCV000734733 likely benign Danon disease no assertion criteria provided clinical testing

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