ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337798 SCV004048097 likely pathogenic Anemia, congenital dyserythropoietic, type 1a criteria provided, single submitter clinical testing The frameshift variant c.885_886del (p.Arg295SerfsTer20) in CDAN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in 1000 Genomes. Null variant (frame-shift), in gene CDAN1 for which loss-of-function is a known mechanism of disease. This variant causes a frameshift starting with codon Arginine 295, changes this amino acid to Serine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Arg295SerfsTer20. For these reasons, this variant has been classified as Likely Pathogenic. The above variant is absent in the spouse.

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