ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg)

dbSNP: rs2050959815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332290 SCV001524550 uncertain significance Spinocerebellar ataxia type 42 2020-11-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV004797936 SCV005419904 uncertain significance not provided 2024-05-31 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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