ClinVar Miner

Submissions for variant NM_024529.4(CDC73):c.1149C>A (p.Asp383Glu) (rs587778167)

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
ITMI RCV000120493 SCV000084646 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000534419 SCV000636178 uncertain significance Parathyroid carcinoma 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 383 of the CDC73 protein (p.Asp383Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDC73-related disease. ClinVar contains an entry for this variant (Variation ID: 133841). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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.