ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1093+2589C>T

gnomAD frequency: 0.00004  dbSNP: rs377303143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155796 SCV000205507 likely benign not specified 2013-11-21 criteria provided, single submitter clinical testing *13C>T in the 3' UTR of LAMP2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It ha s been identified in 1/6728 European American chromosomes by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs377303143). *13C>T in the 3' UTR of LAMP2 (rs377303143, allele frequency = 1/6728) **
GeneDx RCV000155796 SCV000728636 benign not specified 2017-05-15 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.

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