ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.28G>A (p.Gly10Arg)

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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 RCV004747730 SCV005344739 uncertain significance DNMT3A-related disorder 2024-06-24 no assertion criteria provided clinical testing The DNMT3A c.28G>A variant is predicted to result in the amino acid substitution p.Gly10Arg. To our knowledge, this variant has not been reported as a germline variant in the literature. This variant is reported in 0.038% of alleles in individuals of East Asian 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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