ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg)

gnomAD frequency: 0.00001  dbSNP: rs1207224249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196243 SCV001366798 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2019-07-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Ambry Genetics RCV004033460 SCV004915067 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.1998C>A (p.S666R) alteration is located in exon 9 (coding exon 9) of the CACNA1G gene. This alteration results from a C to A substitution at nucleotide position 1998, causing the serine (S) at amino acid position 666 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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