ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro)

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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 RCV002701222 SCV002989537 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2022-10-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. 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 expected to disrupt DNMT3A protein function. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 637 of the DNMT3A protein (p.Leu637Pro).

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