Submissions for variant NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)

gnomAD frequency: 0.17482  dbSNP: rs16030

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116525	SCV000306697	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116525	SCV000519300	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000116525	SCV000841270	benign	not specified	2021-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312052	SCV000845839	benign	Inborn genetic diseases	2016-02-09	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV001522001	SCV001731450	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116525	SCV000150476	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116525	SCV001742075	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116525	SCV001953547	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116525	SCV001967470	benign	not specified		no assertion criteria provided	clinical testing