ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340796 SCV004047520 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits criteria provided, single submitter clinical testing The missense variant c.1807A>G (p.Lys603Glu) in CACNA1G 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 0.01% in the gnomAD and 0.08% in the 1000 genome database. The amino acid Lysine at position 603 is changed to a Glutamic acid changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Revvity Omics, Revvity RCV003491365 SCV004234905 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing

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