ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys)

dbSNP: rs374676136
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667463 SCV000791915 uncertain significance Alstrom syndrome 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000667463 SCV003296283 uncertain significance Alstrom syndrome 2022-01-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1942 of the ALMS1 protein (p.Tyr1942Cys). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 552237).
Natera, Inc. RCV000667463 SCV001465791 uncertain significance Alstrom syndrome 2020-08-14 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.