ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)

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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 RCV003144731 SCV003829409 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294648 SCV003998631 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.2995G>A (p.A999T) alteration is located in exon 23 (coding exon 23) of the CDAN1 gene. This alteration results from a G to A substitution at nucleotide position 2995, causing the alanine (A) at amino acid position 999 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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