ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) (rs199874928)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489710 SCV000577107 uncertain significance not provided 2018-12-17 criteria provided, single submitter clinical testing The N3923S variant of uncertain significance in the ALMS1 gene has not been published as pathogenic or been reported as benign to our knowledge. However, the N3923S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and 2/3 in silico algorithms predict this variant likely does not alter the protein structure/function. Furthermore, the Exome Aggregation Consortium (ExAC) reports the N3923S variant was observed in 22/9,858 (0.2%) alleles from individuals of African ancestry (Lek et al., 2016).
Invitae RCV001088400 SCV000756169 likely benign Alstrom syndrome 2020-11-16 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172500 SCV001335553 likely benign Monogenic diabetes 2018-01-26 criteria provided, single submitter research ACMG criteria: PP3 (3 predictors), BP4 (7 predictors), BP1 (missense in gene with truncating cause disease)=likely benign
Natera, Inc. RCV001088400 SCV001459607 likely benign Alstrom syndrome 2020-05-02 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.