ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)

dbSNP: rs866179648
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002462887 SCV002756669 pathogenic not provided 2022-05-17 criteria provided, single submitter clinical testing Frameshift 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: 27133828)
Invitae RCV002462887 SCV003459874 pathogenic not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr529Argfs*12) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with myelodysplasia (PMID: 27133828). ClinVar contains an entry for this variant (Variation ID: 978204). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003393927 SCV004111919 likely pathogenic DDX41-related condition 2024-01-16 criteria provided, single submitter clinical testing The DDX41 c.1586_1587delCA variant is predicted to result in a frameshift and premature protein termination (p.Thr529Argfs*12). This variant was reported in a patient with myelodysplasia with acute myeloid leukaemia (Cardoso et al. 2016. PubMed ID: 27133828). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in DDX41 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV003224810 SCV004190941 pathogenic DDX41-related hematologic malignancy predisposition syndrome 2023-10-09 criteria provided, single submitter clinical testing
Bone Marrow Failure laboratory, Queen Mary University London RCV001256170 SCV001432954 likely pathogenic Acute myeloid leukemia 2020-09-01 no assertion criteria provided research This heterozygous frameshift variant of DDX41 was identified in a 58-year old female with AML. Her mother had refractory anemia but has not been tested. Her daughter is an asymptomatic carrier of the variant. The following ACMG/AMP criteria were used: PVS1, PP3.
Clinical Genomics Labs, University Health Network RCV003224810 SCV003920871 pathogenic DDX41-related hematologic malignancy predisposition syndrome 2021-02-16 no assertion criteria provided clinical testing

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