ClinVar Miner

Submissions for variant NM_002294.2(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
Ambry Genetics RCV000618305 SCV000740144 benign Cardiovascular phenotype 2017-04-13 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
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 uncertain significance Danon disease 2016-06-14 criteria provided, single submitter clinical testing
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 (http://evs.gs.washington.edu/EVS/; 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.

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