ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1591G>C (p.Asp531His)

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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 RCV004974392 SCV005573351 uncertain significance Inborn genetic diseases 2024-12-08 criteria provided, single submitter clinical testing The p.D531H variant (also known as c.1591G>C), located in coding exon 13 of the DNMT3A gene, results from a G to C substitution at nucleotide position 1591. The aspartic acid at codon 531 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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