ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.862C>T (p.Arg288Trp)

dbSNP: rs770884084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755373 SCV002005537 uncertain significance not provided 2019-02-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004746447 SCV005359519 uncertain significance DNMT3A-related disorder 2024-03-06 no assertion criteria provided clinical testing The DNMT3A c.862C>T variant is predicted to result in the amino acid substitution p.Arg288Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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