ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) (rs1568447650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710963 SCV000841279 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing
Care4Rare-SOLVE, CHEO RCV000855537 SCV000998566 uncertain significance Spastic ataxia 2019-11-01 criteria provided, single submitter research This missense variant in exon 32 has not been seen in healthy control populations (EVS, 1000Genomes, ExAC, gnomAD) and is predicted to impact protein structure/and or function by in silico analysis programs(SIFT, PolyPhen-2, CADD). While no one has been reported with the same nucleic acid base change, one other individual was reported with this same amino acid change and a similar spastic presentation (Coutelier et al. 2018. PMID: 29482223). Two other individuals had a similar amino acid change at this location and also presented with hemiplegic migraines and spasticity. Segregation of this variant in unaffected relatives was not available.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000710963 SCV001446839 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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