ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144742 SCV003829427 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003144742 SCV004562612 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246114 SCV004922340 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.2650A>C (p.T884P) alteration is located in exon 20 (coding exon 20) of the CDAN1 gene. This alteration results from a A to C substitution at nucleotide position 2650, causing the threonine (T) at amino acid position 884 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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