ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp)

gnomAD frequency: 0.00001  dbSNP: rs1444290546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591727 SCV001815778 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2020-07-24 criteria provided, single submitter clinical testing
GeneDx RCV002508319 SCV002817504 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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