ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2483G>A (p.Arg828His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002662511 SCV002973014 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-22 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs771137155, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 828 of the WDR19 protein (p.Arg828His).
PreventionGenetics, part of Exact Sciences RCV004545361 SCV004785056 uncertain significance WDR19-related disorder 2024-02-13 criteria provided, single submitter clinical testing The WDR19 c.2483G>A variant is predicted to result in the amino acid substitution p.Arg828His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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