ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)

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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 RCV003144736 SCV003829416 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003341547 SCV004061351 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.2672G>A (p.R891H) alteration is located in exon 20 (coding exon 20) of the CDAN1 gene. This alteration results from a G to A substitution at nucleotide position 2672, causing the arginine (R) at amino acid position 891 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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