ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)

dbSNP: rs2144773045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV002227403 SCV002506532 likely 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314034 SCV004013412 pathogenic CACNA1A-associated disorder 2023-04-20 criteria provided, single submitter clinical testing PS1, PS4_Supporting, PM1, PM2, PP2, PP3
GenomeConnect - Brain Gene Registry RCV003234171 SCV003931173 not provided Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1 no assertion provided phenotyping only Variant classified as Likely pathogenic and reported on 12-16-2017 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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