Submissions for variant NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)

gnomAD frequency: 0.00131  dbSNP: rs375628894

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723660	SCV000111355	uncertain significance	not provided	2013-08-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000723660	SCV000525901	benign	not provided	2018-03-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083894	SCV000656716	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313755	SCV000849016	likely benign	Inborn genetic diseases	2017-02-10	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.
Athena Diagnostics	RCV000079476	SCV001879648	benign	not specified	2021-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723660	SCV003918082	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003985267	SCV004780783	benign	CACNA1A-related disorder	2019-09-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).