ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2110G>T (p.Val704Phe) (rs927029236)

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
Ambry Genetics RCV000571517 SCV000674819 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000412382 SCV000489915 uncertain significance Multiple endocrine neoplasia, type 2b 2016-08-03 criteria provided, single submitter clinical testing
Counsyl RCV000409974 SCV000489916 uncertain significance Multiple endocrine neoplasia, type 2a 2016-08-03 criteria provided, single submitter clinical testing
Invitae RCV000690291 SCV000817972 uncertain significance Multiple endocrine neoplasia, type 2 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 704 of the RET protein (p.Val704Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with unilateral renal agenesis (PMID: 21900877), and an individual affected with hyperparathyroidism (PMID: 28946813). ClinVar contains an entry for this variant (Variation ID: 372088). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.

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.