ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)

gnomAD frequency: 0.00001  dbSNP: rs778039192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383659 SCV001582879 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071241). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs778039192, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg130*) in the WDR19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549).

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