ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002286499 SCV002576472 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-09-20 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_138477.4:c.2110G>A._x000D_ Criteria applied: PP3, PM2_SUP, PM3_SUP
Revvity Omics, Revvity RCV002286499 SCV003829400 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-10-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235699 SCV003934191 uncertain significance not specified 2023-05-23 criteria provided, single submitter clinical testing Variant summary: CDAN1 c.2029C>T (p.Arg677Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5e-05 in 240710 control chromosomes (gnomAD). c.2029C>T has been reported in the literature in an individual affected with Congenital dyserythropoietic anemia (Wang_2018), and this patient was reported as compound heterozygous with a truncating variant. These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 29031773). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified it as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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