ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2327A>G (p.Asn776Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721858 SCV005327089 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing Reported as a de novo variant in a patient with a developmental disorder in published literature; however, no further phenotypic information was provided (Deciphering Developmental Disorders Study, 2017); 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 and splicing; This variant is associated with the following publications: (PMID: 31785789, 28135719)

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