Submissions for variant NM_025132.4(WDR19):c.1479T>C (p.Asp493=)

dbSNP: rs1207013785

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001229171	SCV001401608	uncertain significance	Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8	2019-08-02	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals with WDR19-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 493 of the WDR19 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WDR19 protein.
Fulgent Genetics, Fulgent Genetics	RCV005036497	SCV005665187	uncertain significance	Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	2024-03-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004545134	SCV004769137	likely benign	WDR19-related disorder	2022-12-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).