ClinVar Miner

Submissions for variant NM_020975.6(RET):c.853T>C (p.Phe285Leu)

dbSNP: rs1554817836
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000654565 SCV000776459 uncertain significance Multiple endocrine neoplasia, type 2 2017-09-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RET-related disease. This sequence change replaces phenylalanine with leucine at codon 285 of the RET protein (p.Phe285Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
All of Us Research Program, National Institutes of Health RCV000654565 SCV005430308 uncertain significance Multiple endocrine neoplasia, type 2 2024-05-09 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.