ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1860+5G>A

gnomAD frequency: 0.00051  dbSNP: rs113313967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001801349 SCV002048224 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512698 SCV003281700 uncertain significance not provided 2022-07-30 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the CDAN1 gene. It does not directly change the encoded amino acid sequence of the CDAN1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs113313967, gnomAD 0.2%). This variant has been observed in individual(s) with dyserythropoietic anemia type 1 (PMID: 16098079). This variant is also known as IVS-12+5G > A. ClinVar contains an entry for this variant (Variation ID: 3181). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in inclusion of intron 12 and introduces a premature termination codon (PMID: 16098079). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002512698 SCV003836972 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 31589614, 26147798, 16098079)
OMIM RCV000003331 SCV000023489 pathogenic Congenital dyserythropoietic anemia, type I 2005-08-01 no assertion criteria provided literature only

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