Submissions for variant NM_025132.4(WDR19):c.3484-2A>C

dbSNP: rs1553918403

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001851418	SCV002298364	likely pathogenic	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2022-11-08	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 446636). Disruption of this splice site has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 29068549). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 31 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).
Dan Cohn Lab, University Of California Los Angeles	RCV000515847	SCV000612048	pathogenic	Type IV short rib polydactyly syndrome	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000515847	SCV001479401	likely pathogenic	Type IV short rib polydactyly syndrome		no assertion criteria provided	research