ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.686A>G (p.Asn229Ser)

dbSNP: rs1064796525
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480544 SCV000573325 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing The N229S variant has not beenpublished as 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). However, the N229S variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure as these residues sharesimilar properties. Moreover, this substitution occurs at a position that is not conserved across species, and in silicoanalysis predicts this variant likely does not alter the protein structure/function.

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.