ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys)

dbSNP: rs1735198326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058540 SCV001223120 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1157 of the WDR19 protein (p.Tyr1157Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 853680). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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