Submissions for variant NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)

gnomAD frequency: 0.00169  dbSNP: rs58173258

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545251	SCV000632109	benign	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2024-01-19	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001334115	SCV001526861	uncertain significance	Epilepsy, childhood absence, susceptibility to, 6	2018-01-18	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Athena Diagnostics	RCV001659680	SCV001880627	uncertain significance	not provided	2021-02-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001659680	SCV004133638	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CACNA1H: BS1, BS2
OMIM	RCV000002825	SCV000022983	risk factor	Epilepsy, idiopathic generalized, susceptibility to, 6	2007-12-01	no assertion criteria provided	literature only
GenomeConnect - Brain Gene Registry	RCV001334115	SCV003804795	not provided	Epilepsy, childhood absence, susceptibility to, 6		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 05-31-2019 by Sema4. 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 Philip Payne PhD, FACMI 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/.
PreventionGenetics, part of Exact Sciences	RCV004532275	SCV004753287	likely benign	CACNA1H-related disorder	2020-04-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).