ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1093+2450G>A

gnomAD frequency: 0.00015  dbSNP: rs149783672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155797 SCV000170072 benign not specified 2014-03-11 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155797 SCV000205508 likely benign not specified 2014-07-25 criteria provided, single submitter clinical testing Ser369Ser in exon 9B of LAMP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3835 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs149783672).
Invitae RCV000638585 SCV000760117 benign Danon disease 2020-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426685 SCV002743135 likely benign Cardiovascular phenotype 2018-07-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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