ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)

dbSNP: rs760854242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260609 SCV001437701 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879994 SCV002183498 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2021-09-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 981258). This variant has not been reported in the literature in individuals affected with DNMT3A-related conditions. This variant is present in population databases (rs760854242, ExAC 0.007%). This sequence change replaces glycine with arginine at codon 332 of the DNMT3A protein (p.Gly332Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001879994 SCV002764673 likely pathogenic Tatton-Brown-Rahman overgrowth syndrome 2021-03-10 criteria provided, single submitter clinical testing

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