ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)

dbSNP: rs1572932391
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
Invitae RCV000814971 SCV000955410 uncertain significance Alstrom syndrome 2021-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442729 SCV002732262 uncertain significance Cardiovascular phenotype 2019-08-20 criteria provided, single submitter clinical testing The p.Q761R variant (also known as c.2282A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 2282. The glutamine at codon 761 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000814971 SCV002785477 uncertain significance Alstrom syndrome 2021-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814971 SCV002080452 uncertain significance Alstrom syndrome 2021-03-01 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.