ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)

gnomAD frequency: 0.00006  dbSNP: rs368347143
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696771 SCV000534252 likely benign not provided 2021-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000815238 SCV000955687 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348243 SCV002649824 likely benign Inborn genetic diseases 2017-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001696771 SCV004185526 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
GenomeConnect - Brain Gene Registry RCV002264938 SCV002547287 not provided Migraine, familial hemiplegic, 1; Early Infantile Epileptic Encephalopathy, Autosomal Dominant no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-23-2020 by lab or GTR ID 500031. 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 John Constantino MD PhD 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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