ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys)

dbSNP: rs756359036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196804 SCV001367437 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2018-11-05 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: PP2,PP3.

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