ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.-4G>C (rs200297370)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037404 SCV000061061 uncertain significance not specified 2012-10-16 criteria provided, single submitter clinical testing The -4G>C variant in LAMP2 has not been reported in the literature nor previousl y identified by our laboratory. This variant has been identified in 1/6723 Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (; dbSNP rs200297370). This variant is l ocated in the 5' UTR of the LAMP2 gene. Although this region can contain regulat ory elements, there is no obvious predicted effect of this variant and there are no other pathogenic variants that have been reported in the 5'UTR region of the LAMP2 gene. In summary, additional information is needed to fully assess the cl inical significance of the -4G>C variant.
GeneDx RCV000037404 SCV000170077 benign not specified 2013-07-30 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.
Illumina Clinical Services Laboratory,Illumina RCV000307020 SCV000481615 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341633 SCV000481616 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.
Ambry Genetics RCV000618305 SCV000740144 benign Cardiovascular phenotype 2017-04-13 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

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