ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003764482 SCV004565128 pathogenic Anemia, congenital dyserythropoietic, type 1a 2023-06-28 criteria provided, single submitter clinical testing The CDAN1 c.169del; p.Leu57Ter variant (rs1383200463), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic.

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