ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.617G>A (p.Trp206Ter)

dbSNP: rs1558697970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760611 SCV000890503 pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing The W206X variant in the DNMT3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W206X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W206X as a pathogenic variant.

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