Submissions for variant NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)

gnomAD frequency: 0.00091  dbSNP: rs121908242

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000513873	SCV000202324	uncertain significance	not provided	2016-06-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000513873	SCV000521007	benign	not provided	2018-11-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18513263, 20129625)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513873	SCV000610075	benign	not provided	2017-08-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080277	SCV000656728	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000059295	SCV001141012	benign	Episodic ataxia type 2	2023-08-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513873	SCV001151715	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2, BS1, BS2
Athena Diagnostics	RCV000152897	SCV001880042	benign	not specified	2021-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426621	SCV002742299	likely benign	Inborn genetic diseases	2017-06-28	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.
PreventionGenetics, part of Exact Sciences	RCV003985266	SCV004772874	likely benign	CACNA1A-related disorder	2020-07-03	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).
UniProtKB/Swiss-Prot	RCV000059295	SCV000090847	not provided	Episodic ataxia type 2		no assertion provided	not provided