ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) (rs138028425)

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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203154 SCV000258083 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000767160 SCV000572645 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing The A1725V variant in the SZT2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1725V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A1725V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. We interpret A1725V as a variant of uncertain significance.

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.