ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1528G>A (p.Val510Ile)

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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 RCV002621039 SCV003511240 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2022-10-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNMT3A protein function. This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. This variant is present in population databases (rs751419033, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 510 of the DNMT3A protein (p.Val510Ile).

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