ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1596dup (p.Met533fs)

dbSNP: rs778822407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003764481 SCV004564371 pathogenic Anemia, congenital dyserythropoietic, type 1a 2023-02-01 criteria provided, single submitter clinical testing The CDAN1 c.1596dup; p.Met533TyrfsTer5 variant (rs778822407), 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 inserting 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005101430 SCV005831814 pathogenic not provided 2025-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met533Tyrfs*5) in the CDAN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDAN1 are known to be pathogenic (PMID: 16098079, 16141353). This variant is present in population databases (rs778822407, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2920867). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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