Submissions for variant NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)

dbSNP: rs775428832

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Personalized Medicine, Children's Hospital Los Angeles	RCV000735366	SCV000854520	uncertain significance	Autistic behavior; Specific learning disability; Abnormal basal ganglia morphology; Abnormal globus pallidus morphology; Bilateral basal ganglia lesions; Abnormal substantia nigra morphology; Attention deficit hyperactivity disorder		criteria provided, single submitter	clinical testing
Mendelics	RCV000990163	SCV001141006	likely benign	Episodic ataxia type 2	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002536537	SCV003690400	likely benign	Inborn genetic diseases	2021-12-28	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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003227847	SCV003924185	uncertain significance	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2021-03-30	criteria provided, single submitter	clinical testing	CACNA1A NM_001127222.1 exon 47 p.Ser2423_Gly2424del (c.7266_7271del): This variant has not been reported in the literature but is present in 0.2% (45/17222) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs775428832). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 2 amino acids at position 2423/2424 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV003424326	SCV004137964	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1A: PM4, BS1
PreventionGenetics, part of Exact Sciences	RCV003985425	SCV004755895	likely benign	CACNA1A-related disorder	2019-07-12	criteria provided, single submitter	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).
GenomeConnect - Brain Gene Registry	RCV003227847	SCV004804630	not provided	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42		no assertion provided	phenotyping only	Variant classified as Uncertain significance and reported on 05-13-2021 by Vanderbilt University Medical Center. 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/.