ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)

dbSNP: rs2144629622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001823375 SCV002072765 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing Identified in three individuals from one family with episodic ataxia; reported as R1785X due to use of alternate nomenclature (PMID: 14718690); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 34775063, 35722745, 14718690, 34806130)
Wendy Chung Laboratory, Columbia University Medical Center RCV002227282 SCV002506550 pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 2022-03-20 criteria provided, single submitter clinical testing

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