ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) (rs368153355)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485406 SCV000573750 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing The P254S variant has not been publishedas pathogenic or been reported as benign to our knowledge. It is not observed at a significant frequency in largepopulation cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P254Svariant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as theseresidues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that isnot conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function.
Counsyl RCV000669813 SCV000794601 uncertain significance Alstrom syndrome 2017-10-03 criteria provided, single submitter 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.