ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335886 SCV004046123 likely pathogenic Anemia, congenital dyserythropoietic, type 1a criteria provided, single submitter clinical testing This frameshifting variant in exon 26 of 28 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, loss-of-function variants downstream of this variant have been reported in affected individuals in the Human Gene Mutation Database (HGMD). It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.3290dup (p.Gly1098ArgfsTer93) variant is classified as Likely Pathogenic.

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