ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4663C>G (p.Arg1555Gly)

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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 RCV004785839 SCV005400901 uncertain significance Spinocerebellar ataxia type 42 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.4663C>G(p.Arg1555Gly) in CACNA1G gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - probably damaging, SIFT - damaging and MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid change p.Arg1555Gly in CACNA1G is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 1555 is changed to a Gly 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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