ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) (rs376989302)

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
Counsyl RCV000666004 SCV000790234 uncertain significance Alstrom syndrome 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV000666004 SCV000835507 uncertain significance Alstrom syndrome 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 202 of the ALMS1 protein (p.Gln202Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs376989302, ExAC 0.01%). This variant has not been reported in the literature in individuals with ALMS1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172507 SCV001335560 likely benign Monogenic diabetes 2017-05-19 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors), BP1 (missense in gene with truncating known) = likely benign
Natera, Inc. RCV000666004 SCV001457867 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572852 SCV001797861 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001572852 SCV001922591 likely benign not provided 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.