ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.2452G>T (p.Val818Leu)

dbSNP: rs121908940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227327 SCV001399680 uncertain significance Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 818 of the DNMT3B protein (p.Val818Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs121908940, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DNMT3B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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