ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=)

gnomAD frequency: 0.00004  dbSNP: rs538669211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928451 SCV001074061 likely benign Tatton-Brown-Rahman overgrowth syndrome 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001593131 SCV001825106 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973177 SCV005578022 likely benign Inborn genetic diseases 2024-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003942885 SCV004760405 likely benign DNMT3A-related disorder 2023-01-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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