ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.52G>A (p.Glu18Lys)

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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 RCV003337907 SCV004048328 uncertain significance Parkinsonian-pyramidal syndrome criteria provided, single submitter clinical testing The missense variant c.52G>A (p.Glu18Lys) in FBXO7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0007%) in the gnomad and novel in 1000 genome database. The amino acid Glutamic acid at position 18 is changed to a Lysine changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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