ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1592G>A (p.Cys531Tyr)

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
Ambry Genetics RCV002398461 SCV002709710 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-18 criteria provided, single submitter clinical testing The p.C531Y variant (also known as c.1592G>A), located in coding exon 8 of the RET gene, results from a G to A substitution at nucleotide position 1592. The cysteine at codon 531 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003464527 SCV004208692 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-09-04 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.