ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3565+1G>A (rs587777352)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212609 SCV001384198 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-08-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 of the WDR19 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs587777352, ExAC 0.008%). This variant has been observed in individuals affected with ciliopathy disorders (PMID: 23559409, 29068549). ClinVar contains an entry for this variant (Variation ID: 127159). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000115015 SCV000148924 pathogenic Senior-Loken syndrome 8 2013-08-01 no assertion criteria provided literature only
Dan Cohn Lab,University Of California Los Angeles RCV000516054 SCV000612044 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
Gharavi Laboratory,Columbia University RCV000681868 SCV000809347 pathogenic not provided 2018-09-16 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516054 SCV001479397 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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