ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003031398 SCV003318797 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2022-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu285*) in the DNMT3A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNMT3A are known to be pathogenic (PMID: 24614070). This variant is present in population databases (rs201882909, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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