ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.632G>A (p.Gly211Asp)

dbSNP: rs1272360706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466151 SCV004190987 uncertain significance DDX41-related hematologic malignancy predisposition syndrome 2023-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV005323446 SCV005990011 uncertain significance Inborn genetic diseases 2025-01-05 criteria provided, single submitter clinical testing The p.G211D variant (also known as c.632G>A), located in coding exon 7 of the DDX41 gene, results from a G to A substitution at nucleotide position 632. The glycine at codon 211 is replaced by aspartic acid, 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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