ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser)

dbSNP: rs372232320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002026338 SCV002303166 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 746 of the WDR19 protein (p.Pro746Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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