ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)

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
Revvity Omics, Revvity RCV003144730 SCV003829408 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-10-05 criteria provided, single submitter clinical testing
Invitae RCV003720771 SCV004518618 uncertain significance not provided 2023-08-08 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 954 of the CDAN1 protein (p.Pro954Leu). This variant is present in population databases (rs773023944, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2439830).

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.