ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1364C>T (p.Ser455Phe)

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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 RCV004764880 SCV005374801 uncertain significance Spinocerebellar ataxia type 42 criteria provided, single submitter clinical testing The observed missense c.1364C>T(p.Ser455Phe) variant in CACNA1G gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser455Phe variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. 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 reference amino acid in CACNA1G is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 455 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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