ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=)

gnomAD frequency: 0.01292  dbSNP: rs116033693
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439779 SCV000533531 benign not specified 2016-10-28 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.
Invitae RCV001083371 SCV000554301 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000439779 SCV000711819 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln632Gln in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 4.44% (435/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs116033693).
Athena Diagnostics Inc RCV000710529 SCV000840769 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411393 SCV002718172 benign Cardiovascular phenotype 2019-01-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001083371 SCV004562286 benign Alstrom syndrome 2022-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083371 SCV001458907 benign Alstrom syndrome 2020-09-16 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.