ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)

gnomAD frequency: 0.40153  dbSNP: rs6546838
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434913 SCV000524248 benign not specified 2016-09-09 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 RCV000434913 SCV000711857 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ile1875Val in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 85.85% (1135/1322) of African chro mosomes by the 1000 Genomes Project (Phase 3; dbSNP rs6546838).
Invitae RCV000860244 SCV001000226 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000860244 SCV001769056 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348190 SCV002649262 benign Cardiovascular phenotype 2018-12-21 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.
Natera, Inc. RCV000860244 SCV001463051 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000434913 SCV001742239 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000434913 SCV001925048 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000434913 SCV001959135 benign not specified 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.