ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln)

dbSNP: rs1573454800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004761885 SCV005370526 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028019 SCV001190783 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2020-02-05 no assertion criteria provided clinical testing

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