ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser)

dbSNP: rs1277873234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001882160 SCV002167354 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1182 of the WDR19 protein (p.Asn1182Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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