ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs)

gnomAD frequency: 0.00004  dbSNP: rs1353172956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384582 SCV001584128 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro375Serfs*3) 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 0.002%). 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: 1071987). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003325573 SCV004031804 pathogenic not provided 2023-08-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with WDR19-related ciliopathy to our knowledge; This variant is associated with the following publications: (PMID: 31964843)

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