ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2297C>T (p.Pro766Leu)

dbSNP: rs1017108031
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205882 SCV001377162 uncertain significance Multiple endocrine neoplasia, type 2 2023-08-30 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 936959). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 766 of the RET protein (p.Pro766Leu).
Ambry Genetics RCV002451436 SCV002737658 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-15 criteria provided, single submitter clinical testing The p.P766L variant (also known as c.2297C>T), located in coding exon 13 of the RET gene, results from a C to T substitution at nucleotide position 2297. The proline at codon 766 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003469333 SCV004208721 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-08-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001205882 SCV004826247 uncertain significance Multiple endocrine neoplasia, type 2 2023-11-30 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.