ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)

dbSNP: rs747165335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754962 SCV000788388 pathogenic Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research
Invitae RCV003768018 SCV004587682 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-04-01 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: 558761). This premature translational stop signal has been observed in individual(s) with skeletal ciliopathy (PMID: 33875766). This variant is present in population databases (rs747165335, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Thr1290Cysfs*14) 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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