ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2931C>G (p.Ser977Arg) (rs375414982)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198200 SCV000255051 uncertain significance Multiple endocrine neoplasia, type 2 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 977 of the RET protein (p.Ser977Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs375414982, ExAC 0.003%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 216722). 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: "Probably 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.
Counsyl RCV000662775 SCV000785576 uncertain significance Multiple endocrine neoplasia, type 2a 2017-09-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679738 SCV000807038 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
Mendelics RCV000662775 SCV000838407 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017530 SCV001178620 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing Insufficient evidence

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.