ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1459T>C (p.Cys487Arg)

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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 RCV004974387 SCV005573340 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The p.C487R variant (also known as c.1459T>C), located in coding exon 11 of the DNMT3A gene, results from a T to C substitution at nucleotide position 1459. The cysteine at codon 487 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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