ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr)

dbSNP: rs1735978246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037562 SCV001200981 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-04-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1263 of the WDR19 protein (p.Cys1263Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 836435). 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.

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