ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2654G>C (p.Arg885Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004974372 SCV005573309 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The p.R885T variant (also known as c.2654G>C), located in coding exon 22 of the DNMT3A gene, results from a G to C substitution at nucleotide position 2654. The arginine at codon 885 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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