ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)

dbSNP: rs1401145684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890451 SCV002150717 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Gln1107*) 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).
Fulgent Genetics, Fulgent Genetics RCV002503474 SCV002812145 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-01-10 criteria provided, single submitter clinical testing

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