ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu)

gnomAD frequency: 0.00001  dbSNP: rs989191437
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
GeneDx RCV000478827 SCV000574077 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing The P90L variant has not been publishedas pathogenic or been reported as benign to our knowledge. It is not observed in large population cohorts (Lek et al.,2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P90L variant is a semi-conservativeamino acid substitution, which may impact secondary protein structure as these residues differ in some properties.However, this substitution occurs at a position that is not conserved across species, and in silico analysis isinconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Lastly,while some missense variants have been reported in association with Alstrom syndrome, most pathogenic variants inALMS1 reported to date are predicted to cause premature protein truncation (Marshall et al., 2012; Stenson et al.,2014).
Invitae RCV000809783 SCV000949958 uncertain significance Alstrom syndrome 2022-09-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 90 of the ALMS1 protein (p.Pro90Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 424286). 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.
Natera, Inc. RCV000809783 SCV001463495 uncertain significance Alstrom syndrome 2020-01-24 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.