ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1797G>T (p.Glu599Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004747672 SCV005342445 uncertain significance DNMT3A-related disorder 2024-08-16 no assertion criteria provided clinical testing The DNMT3A c.1797G>T variant is predicted to result in the amino acid substitution p.Glu599Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) 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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