ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1342G>A (p.Val448Ile)

dbSNP: rs760418892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001917730 SCV002168552 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-06-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (rs760418892, ExAC 0.01%). This sequence change replaces valine with isoleucine at codon 448 of the WDR19 protein (p.Val448Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.

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