ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2480T>C (p.Leu827Pro)

dbSNP: rs2132945857
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 RCV002031063 SCV002316955 uncertain significance Multiple endocrine neoplasia, type 2 2022-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RET-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 827 of the RET protein (p.Leu827Pro). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
Fulgent Genetics, Fulgent Genetics RCV002486763 SCV002778136 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2022-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464399 SCV004208651 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004656846 SCV005156992 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-01 criteria provided, single submitter clinical testing The p.L827P variant (also known as c.2480T>C), located in coding exon 14 of the RET gene, results from a T to C substitution at nucleotide position 2480. The leucine at codon 827 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.