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

gnomAD frequency: 0.00006  dbSNP: rs201180239

Total submissions: 3

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.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004697097	SCV005196642	likely pathogenic	not provided	2022-05-27	criteria provided, single submitter	clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	RCV001280798	SCV001468132	likely pathogenic	Warsaw breakage syndrome	2020-05-28	no assertion criteria provided	clinical testing