ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1228C>T (p.Arg410Trp)

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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 RCV004785850 SCV005400915 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant in 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 of 0.0008% in the gnomAD Exomes. The amino acid Arg at position 410 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg410Trp in CACNA1G is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Possibly Damaging, SIFT - Damaging, and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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