ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144737 SCV003829419 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-12-05 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003144737 SCV004046124 likely pathogenic Anemia, congenital dyserythropoietic, type 1a criteria provided, single submitter clinical testing This variant has been previously reported in the compound heterozygous state in an individual with Congenital Dyserythropoietic Anemia Type Ia (variant is referred to as c.2067C>T; p.Arg687Trp) reported to have a severe manifestation of the disease that included severe neonatal onset anemia and bone abnormalities (PMID: 16098079). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0008% (2/246074) and thus is presumed to be rare. The c.2062C>T (p.Arg688Trp) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.2062C>T (p.Arg688Trp) variant is classified as Likely Pathogenic.

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