ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3373A>G (p.Ser1125Gly)

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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 RCV004577147 SCV005061012 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits criteria provided, single submitter clinical testing The observed missense c.3373A>G(p.Ser1125Gly) variant in CACNA1G gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser1125Gly variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Ser1125Gly in CACNA1G is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 1125 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 Variant of Uncertain Significance (VUS).

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