ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)

gnomAD frequency: 0.00001  dbSNP: rs771148519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754959 SCV000788385 pathogenic Cranioectodermal dysplasia 2018-05-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002499193 SCV002811067 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-12-14 criteria provided, single submitter clinical testing
Invitae RCV003106018 SCV003780145 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558759). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs771148519, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr541*) 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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