ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003229793 SCV003927237 uncertain significance Acute myeloid leukemia 2023-03-13 criteria provided, single submitter clinical testing This DNMT3A variant is absent from a large population dataset and has not been reported in ClinVar or the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the leucine residue at this position is strongly conserved across the vertebrate species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 23 splicing, although this has not been confirmed experimentally to our knowledge. This amino acid substitution occurs in the methyltransferase (MTase) catalytic domain of the DNMT3A protein. Due to insufficient evidence, we consider the clinical significance of c.2666T>G (p.Leu889Arg) to be uncertain at this time.

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