ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2633G>A (p.Arg878His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003070949 SCV003445400 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 878 of the WDR19 protein (p.Arg878His). This variant is present in population databases (rs369494725, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. 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 tolerated. 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.
Ambry Genetics RCV004070208 SCV004979268 uncertain significance Inborn genetic diseases 2024-03-05 criteria provided, single submitter clinical testing The c.2633G>A (p.R878H) alteration is located in exon 23 (coding exon 23) of the WDR19 gene. This alteration results from a G to A substitution at nucleotide position 2633, causing the arginine (R) at amino acid position 878 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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