ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.641dup (p.Leu214fs)

dbSNP: rs587777348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854542 SCV002236731 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-24 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: 127154). This premature translational stop signal has been observed in individual(s) with nephronophthisis and retinal dystrophy (PMID: 23559409). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu214Phefs*5) 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 RCV002498492 SCV002813843 pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-12-07 criteria provided, single submitter clinical testing
OMIM RCV000115010 SCV000148919 pathogenic Senior-Loken syndrome 8 2013-08-01 no assertion criteria provided literature only

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