ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln)

gnomAD frequency: 0.00002  dbSNP: rs777323929
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286928 SCV001473557 uncertain significance Congenital dyserythropoietic anemia, type I 2020-02-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145510 SCV003829415 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346427 SCV004068580 uncertain significance Inborn genetic diseases 2023-07-31 criteria provided, single submitter clinical testing The c.845G>A (p.R282Q) alteration is located in exon 4 (coding exon 4) of the CDAN1 gene. This alteration results from a G to A substitution at nucleotide position 845, causing the arginine (R) at amino acid position 282 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration 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.