ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)

dbSNP: rs775181779
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591895 SCV001816040 pathogenic Cone dystrophy 2021-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501946 SCV002810535 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571163 SCV002944819 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1213952). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg829*) 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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