Submissions for variant NM_025132.4(WDR19):c.3184-2A>C

dbSNP: rs1020915921

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001970776	SCV002267168	pathogenic	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2024-01-02	criteria provided, single submitter	clinical testing	This sequence change affects an acceptor splice site in intron 28 of the WDR19 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with WDR19-related conditions (PMID: 34529350, 36909829). ClinVar contains an entry for this variant (Variation ID: 1473602). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	RCV003324579	SCV004030351	pathogenic	Renal dysplasia and retinal aplasia	2023-07-24	criteria provided, single submitter	research	Clinical significance based on ACMG v2.0