ClinVar Miner

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

dbSNP: rs1207013785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.
PreventionGenetics, part of Exact Sciences RCV004545134 SCV004769137 likely benign WDR19-related disorder 2022-12-30 criteria provided, single submitter 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).

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