ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)

gnomAD frequency: 0.00005  dbSNP: rs377745714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819963 SCV002067013 pathogenic not provided 2019-06-08 criteria provided, single submitter clinical testing DNA sequence analysis of the DDX41 gene demonstrated a sequence change, c.142C>T, which results in the creation of a premature stop codon at amino acid position 48, p.Gln48*. The p.Gln48* sequence change has not been previously described in patients with DDX41-related disorders, and has been observed in the EXAC database with a low population frequency of 0.002%. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated DDX41 protein with potentially abnormal function.
GeneDx RCV001819963 SCV004170040 pathogenic not provided 2023-05-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30963592, 36672294)
Invitae RCV001819963 SCV004369150 pathogenic not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln48*) in the DDX41 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DDX41 are known to be pathogenic (PMID: 26712909, 27133828). This variant is present in population databases (rs377745714, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of DDX41-related conditions (PMID: 30963592). ClinVar contains an entry for this variant (Variation ID: 978209). For these reasons, this variant has been classified as Pathogenic.
Bone Marrow Failure laboratory, Queen Mary University London RCV001256176 SCV001432960 likely pathogenic Acute myeloid leukemia 2020-09-01 no assertion criteria provided research This heterozygous stop-gain variant of DDX41 was identified in a 54-year old male with AML. His father and two paternal uncles died of leukemia but have not been tested. The following ACMG/AMP criteria were used: PVS1, PP3

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