ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2609del (p.Phe870fs)

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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 RCV003746055 SCV004452065 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DNMT3A protein in which other variant(s) (p.Arg882Cys) have been determined to be pathogenic (PMID: 27317772, 28432085, 31620784). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe870Serfs*11) in the DNMT3A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the DNMT3A protein.

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