ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1480T>A (p.Cys494Ser)

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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 RCV004974371 SCV005573308 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The p.C494S variant (also known as c.1480T>A), located in coding exon 12 of the DNMT3A gene, results from a T to A substitution at nucleotide position 1480. The cysteine at codon 494 is replaced by serine, an amino acid with dissimilar 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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