ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2213T>G (p.Leu738Arg)

dbSNP: rs745714537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422670 SCV000534680 likely pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing The L738R variant in the DNMT3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L738R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L738R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret L738R as a likely pathogenic variant.

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