ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003492962 SCV004234993 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364874 SCV004922328 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.1606G>C (p.A536P) alteration is located in exon 11 (coding exon 11) of the CDAN1 gene. This alteration results from a G to C substitution at nucleotide position 1606, causing the alanine (A) at amino acid position 536 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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