ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510644 SCV002820142 uncertain significance Galloway-Mowat syndrome 1 criteria provided, single submitter clinical testing The variant c.647G>A in WDR73 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The amino acid Ser at position 216 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. The residue is conserved across species. The amino acid change p.Ser216Asn in WDR73 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. In silico tools predict the variant to be tolerated. For these reasons, this variant has been classified as Uncertain Significance.

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