ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) (rs181507134)

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 RCV000666508 SCV000790813 uncertain significance Alstrom syndrome 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000666508 SCV001493014 uncertain significance Alstrom syndrome 2020-08-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1086 of the ALMS1 protein (p.Gln1086His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs181507134, ExAC 0.003%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 551445). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Baylor Genetics RCV000666508 SCV001524206 uncertain significance Alstrom syndrome 2019-03-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.