ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.5018G>C (p.Arg1673Pro) (rs1057519429)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416438 SCV000494150 pathogenic Cerebellar ataxia no assertion criteria provided research This variant was identified, de novo, in an individual with non-fluctuating ataxia.
Undiagnosed Diseases Network,NIH RCV000556499 SCV000622144 likely pathogenic Cerebellar ataxia; Intellectual disability; Cerebellar atrophy 2015-12-19 no assertion criteria provided clinical testing Likely pathogenicity based on finding it once in our study de novo in an 8-year-old female with delayed motor milestones, delayed speech, progressive cerebellar atrophy, hypotonia, and problems with coordination. Our patient has been reported in PMCID:PMC5557584 (patient 1).

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