ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.276C>T (p.Phe92=)

gnomAD frequency: 0.00003  dbSNP: rs754577706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220890 SCV000270339 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Phe92Phe in exon 3 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 1/47990 European ch romosomes and 1/9321 Latino chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV000638584 SCV000760116 likely benign Danon disease 2023-09-30 criteria provided, single submitter clinical testing
GeneDx RCV001658013 SCV001881462 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639180 SCV005134656 likely benign Cardiovascular phenotype 2024-05-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.