ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.2221G>A (p.Gly741Arg)

gnomAD frequency: 0.00002  dbSNP: rs769823434
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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 RCV001294295 SCV001483167 uncertain significance Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2022-05-28 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 741 of the DNMT3B protein (p.Gly741Arg). This variant is present in population databases (rs769823434, gnomAD 0.02%). This missense change has been observed in individual(s) with immunodeficiency-centromeric instability-facial anomalies syndrome (PMID: 28128455). ClinVar contains an entry for this variant (Variation ID: 998437). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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