ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)

gnomAD frequency: 0.00006  dbSNP: rs201180239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280798 SCV003934034 pathogenic Warsaw breakage syndrome 2023-05-31 criteria provided, single submitter clinical testing Variant summary: DDX11 c.1672C>T (p.Arg558X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 5.6e-05 in 251404 control chromosomes (gnomAD). c.1672C>T has been reported in the literature in compound heterozygous individuals affected with Warsaw Breakage Syndrome (van Schie_2020). These data indicate that the variant is likely associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 32855419). One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified it as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280798 SCV001468132 likely pathogenic Warsaw breakage syndrome 2020-05-28 no assertion criteria provided clinical testing

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