ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=)

gnomAD frequency: 0.42004  dbSNP: rs12449998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434902 SCV000512467 benign not specified 2016-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001554550 SCV001775804 benign Spinocerebellar ataxia type 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554551 SCV001775805 benign Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524755 SCV003196939 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002524755 SCV005250053 benign not provided criteria provided, single submitter not provided

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