ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)

dbSNP: rs121908230
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516653 SCV000612537 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing This variant segregates with hemiplegic migraine with progressive cerebellar ataxia in at least one family and has also been seen in at least one de novo case. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.
CeGaT Center for Human Genetics Tuebingen RCV000516653 SCV001248620 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000516653 SCV001447587 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000516653 SCV002552987 likely pathogenic not provided 2022-01-12 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; This variant is associated with the following publications: (PMID: 27435762, 15032980, 29482223, 33790770)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795386 SCV005415799 pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 criteria provided, single submitter clinical testing PM2_Supporting+PP2+PS4+PM6+PP1_Moderate+PP3_Strong+PP4
OMIM RCV000009039 SCV000029256 pathogenic Migraine, familial hemiplegic, 1 2008-11-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000009039 SCV000090852 not provided Migraine, familial hemiplegic, 1 no assertion provided not provided
Solve-RD Consortium RCV004766990 SCV005091511 likely pathogenic Developmental and epileptic encephalopathy, 42 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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