Submissions for variant NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)

dbSNP: rs201311000

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000710948	SCV000535040	benign	not provided	2019-10-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710948	SCV000841262	likely benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710948	SCV000892548	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2, BS1
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080177	SCV001028121	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-17	criteria provided, single submitter	clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	RCV001643142	SCV001519111	uncertain significance	Episodic ataxia type 2	2021-07-12	criteria provided, single submitter	research
Ambry Genetics	RCV002446750	SCV002612396	benign	Inborn genetic diseases	2019-02-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV003985352	SCV004777797	likely benign	CACNA1A-related disorder	2021-02-04	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710948	SCV001929366	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710948	SCV001976130	likely benign	not provided		no assertion criteria provided	clinical testing