ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1357-2A>T

dbSNP: rs1221444922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377034 SCV001574260 likely pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-06-23 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. Donor and acceptor splice site variants 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of WDR19-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 13 of the WDR19 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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