ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.1403dup (p.Ser469fs)

gnomAD frequency: 0.00013  dbSNP: rs778363138
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001280920 SCV001521662 pathogenic Warsaw breakage syndrome 2019-02-01 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001577234 SCV001804581 pathogenic not provided 2021-11-23 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; This variant is associated with the following publications: (PMID: 32853555)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001280920 SCV001976801 pathogenic Warsaw breakage syndrome 2021-10-05 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001280920 SCV003803089 pathogenic Warsaw breakage syndrome 2023-02-15 criteria provided, single submitter clinical testing
3billion RCV001280920 SCV003841937 pathogenic Warsaw breakage syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.019%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000992470 / PMID: 34906519). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280920 SCV001468267 likely pathogenic Warsaw breakage syndrome 2020-05-28 no assertion criteria provided clinical testing

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