Submissions for variant NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)

dbSNP: rs1273811425

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002007147	SCV002236401	pathogenic	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2021-07-14	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp147*) 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).
PreventionGenetics, part of Exact Sciences	RCV004542198	SCV004797880	likely pathogenic	WDR19-related disorder	2023-11-13	criteria provided, single submitter	clinical testing	The WDR19 c.441G>A variant is predicted to result in premature protein termination (p.Trp147*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in WDR19 are expected to be pathogenic. This variant is interpreted as likely pathogenic.