ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.364G>T (p.Glu122Ter)

gnomAD frequency: 0.00001  dbSNP: rs200567842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822333 SCV000963131 pathogenic not provided 2022-12-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 664269). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DDX41-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu122*) 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).
Mendelics RCV002249532 SCV002519086 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467511 SCV004190956 likely pathogenic DDX41-related hematologic malignancy predisposition syndrome 2023-09-08 criteria provided, single submitter clinical testing

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