Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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, |
RCV003491365 | SCV004234905 | uncertain significance | not provided | 2023-11-16 | criteria provided, single submitter | clinical testing |