ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.113G>A (p.Arg38His)

gnomAD frequency: 0.00001  dbSNP: rs369618387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837416 SCV002098009 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2020-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001837416 SCV003261029 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 38 of the DNMT3A protein (p.Arg38His). This variant is present in population databases (rs369618387, gnomAD 0.02%). 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: 1341936). 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.
PreventionGenetics, part of Exact Sciences RCV003416488 SCV004109515 uncertain significance DNMT3A-related disorder 2024-05-01 no assertion criteria provided clinical testing The DNMT3A c.113G>A variant is predicted to result in the amino acid substitution p.Arg38His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino 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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