ClinVar Miner

Submissions for variant NM_003719.5(PDE8B):c.133G>C (p.Val45Leu)

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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 RCV004720677 SCV005329528 uncertain significance Autosomal dominant striatal neurodegeneration type 1 2023-05-20 criteria provided, single submitter clinical testing The missense c.133G>C (p.Val45Leu) variant in the PDE8B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Valine at position 45 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid change p.Val45Leu in PDE8B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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