ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)

dbSNP: rs121908220
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000059303 SCV000292240 pathogenic Migraine, familial hemiplegic, 1 2016-04-25 criteria provided, single submitter clinical testing Pathogenic variants in CACNA1A have been reported to cause familial hemiplegic migraine. Here we report a case of a female patient with hemiplegic migraine caused by a pathogenic variant in CACNA1A.
Athena Diagnostics RCV000991674 SCV001143331 likely pathogenic not provided 2019-08-12 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/278210 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Statistically associated with disease, but in a single family (p < 0.05).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000059303 SCV003930378 pathogenic Migraine, familial hemiplegic, 1 2023-06-13 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059303 SCV000090861 not provided Migraine, familial hemiplegic, 1 no assertion provided not provided

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