ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser)

dbSNP: rs756862143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801272 SCV000941043 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2018-08-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 1054 of the WDR19 protein (p.Ala1054Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant has not been reported in the literature in individuals with WDR19-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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