ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn)

dbSNP: rs2140513573
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227330 SCV002506175 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093895 SCV002957026 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1679451). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 93 of the CDAN1 protein (p.Ser93Asn).
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002227330 SCV005402422 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2024-05-27 criteria provided, single submitter clinical testing The CDAN1 c.278_279delinsAT (p.Ser93Asn) is an in-frame deletion-insertion. The variant is observed in gnomAD; however, the minor allele frequency cannot be estimated with certainty (https://gnomad.broadinstitute.org/). In silico evaluation of the impact of this variant on protein function cannot be determined, and functional studies have not been performed. This variant has not been reported in individuals with CDAN1-related congenital dyserythropoietic anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.