ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)

dbSNP: rs1421636172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536016 SCV001752697 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771654 SCV004583223 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr868Serfs*50) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1179139). For these reasons, this variant has been classified as Pathogenic.

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