ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.339C>T (p.Ser113=) (rs147369153)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037415 SCV000061072 likely benign not specified 2015-12-22 criteria provided, single submitter clinical testing p.Ser113Ser in exon 3 of LAMP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (53/47985) of European chromosomes, including 16 hemizygotes, by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs147369153).
Ambry Genetics RCV000242077 SCV000318591 benign Cardiovascular phenotype 2015-11-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000295297 SCV000481609 benign Danon disease 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000350248 SCV000481610 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000295297 SCV000560069 benign Danon disease 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716100 SCV000846933 benign History of neurodevelopmental disorder 2015-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770584 SCV000902033 benign Cardiomyopathy 2017-08-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000295297 SCV000734735 likely benign Danon disease no assertion criteria provided clinical testing

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