ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=)

gnomAD frequency: 0.00123  dbSNP: rs181757577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652289 SCV000774157 benign Tatton-Brown-Rahman overgrowth syndrome 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001653973 SCV001870803 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653973 SCV005262660 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004972824 SCV005578019 likely benign Inborn genetic diseases 2024-10-04 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 RCV003928130 SCV004744849 benign DNMT3A-related disorder 2021-09-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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