ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002624801 SCV003517567 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2024-04-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 113 of the DNMT3A protein (p.Gly113Arg). This variant is present in population databases (rs758151481, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2197242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV004721123 SCV005329893 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DNMT3A: BS2
PreventionGenetics, part of Exact Sciences RCV003973718 SCV004792186 uncertain significance DNMT3A-related disorder 2024-09-20 no assertion criteria provided clinical testing The DNMT3A c.337G>A variant is predicted to result in the amino acid substitution p.Gly113Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0047% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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