Submissions for variant NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)

gnomAD frequency: 0.00074  dbSNP: rs199745070

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726478	SCV000321494	benign	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726478	SCV000344965	uncertain significance	not provided	2016-09-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088856	SCV001098914	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726478	SCV002585713	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	CACNA1A: BS1, BS2
Ambry Genetics	RCV002321939	SCV002606277	likely benign	Inborn genetic diseases	2018-04-25	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.