ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)

gnomAD frequency: 0.00001  dbSNP: rs368561457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647192 SCV001519113 likely pathogenic Spinocerebellar ataxia type 42 2021-01-04 criteria provided, single submitter research
GeneDx RCV004727150 SCV005331894 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing Reported in an individual with late onset spinocerebellar ataxia (Galatolo et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34445196)

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