ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)

gnomAD frequency: 0.00004  dbSNP: rs750087396
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732160 SCV000860072 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825705 SCV000967153 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Glu3820Glu in exon 16 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.13% (15/11466) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs750087396).
Invitae RCV001085207 SCV001014684 likely benign Alstrom syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000732160 SCV001772274 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334413 SCV002619126 likely benign Cardiovascular phenotype 2021-06-14 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.
Natera, Inc. RCV001085207 SCV001459604 likely benign Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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.