ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro)

dbSNP: rs2109483428
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002031794 SCV002311444 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-10-11 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1079 of the WDR19 protein (p.Leu1079Pro).

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