ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3484-2A>C

dbSNP: rs1553918403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851418 SCV002298364 likely pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-11-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 31 of the WDR19 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446636). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Dan Cohn Lab,University Of California Los Angeles RCV000515847 SCV000612048 pathogenic Type IV short rib polydactyly syndrome 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515847 SCV001479401 likely pathogenic Type IV short rib polydactyly syndrome no assertion criteria provided research

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