ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) (rs773630367)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691798 SCV000819590 uncertain significance Alstrom syndrome 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1002 of the ALMS1 protein (p.Gly1002Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs773630367, ExAC 0.002%). 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 do not agree on the potential impact of this missense change (SIFT: Deleterious; Align-GVGD: Class C0). 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 RCV001172513 SCV001335566 likely benign Monogenic diabetes 2019-01-11 criteria provided, single submitter research ACMG criteria: BP4 (0.088 + 9 predictors), BP1 (missense in gene where truncating primarily cause disease)= likely benign

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.