ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)

gnomAD frequency: 0.00005  dbSNP: rs749621367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001867840 SCV002131281 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-02-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs749621367, ExAC 0.03%). This sequence change replaces valine with glutamic acid at codon 817 of the WDR19 protein (p.Val817Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002478174 SCV002788109 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-03-31 criteria provided, single submitter clinical testing

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