ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys)

gnomAD frequency: 0.00002  dbSNP: rs764025922
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
Baylor Genetics RCV001330351 SCV001522003 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035693 SCV004922346 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.3043C>T (p.R1015C) alteration is located in exon 23 (coding exon 23) of the CDAN1 gene. This alteration results from a C to T substitution at nucleotide position 3043, causing the arginine (R) at amino acid position 1015 to be replaced by a cysteine (C). 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.