ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)

gnomAD frequency: 0.00001  dbSNP: rs899399494
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794600 SCV002032432 pathogenic not provided 2024-03-11 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: 37665752, 36672294, 35443031, 35671390, 32307695, 34644397, 37874914)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003313232 SCV004012907 pathogenic Inherited acute myeloid leukemia 2023-07-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470918 SCV004190945 pathogenic DDX41-related hematologic malignancy predisposition syndrome 2023-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001794600 SCV004687081 pathogenic not provided 2023-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg311*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with DDX41-related conditions (PMID: 35671390). ClinVar contains an entry for this variant (Variation ID: 1327658). For these reasons, this variant has been classified as Pathogenic.

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