ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)

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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 RCV003492960 SCV004234991 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364872 SCV004922348 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.3106T>C (p.S1036P) alteration is located in exon 24 (coding exon 24) of the CDAN1 gene. This alteration results from a T to C substitution at nucleotide position 3106, causing the serine (S) at amino acid position 1036 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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