ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr)

dbSNP: rs1168307194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360075 SCV001555972 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-02-24 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1051965). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 810 of the WDR19 protein (p.Asp810Tyr).

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