ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)

gnomAD frequency: 0.00024  dbSNP: rs181448047
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000371439 SCV000391102 likely benign Congenital dyserythropoietic anemia, type I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002520951 SCV003253704 benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Department of Emergency, The First Affiliated Hospital of Army Medical University RCV002280780 SCV002569070 pathogenic Anemia, congenital dyserythropoietic, type 1a no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003920324 SCV004737375 uncertain significance CDAN1-related disorder 2023-11-21 no assertion criteria provided clinical testing The CDAN1 c.2059C>T variant is predicted to result in the amino acid substitution p.Arg687Cys. This variant was reported in the homozygous state in a case of congenital dyserythropoietic anemia type I with hydrops fetalis (Liu et al. 2018. PubMed ID: 30786798). This variant is reported in 0.81% of alleles in individuals of East Asian descent in gnomAD with no homozygous observations. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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