Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
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. |
Gene |
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, |
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 |