Submissions for variant NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)

gnomAD frequency: 0.00019  dbSNP: rs749357610

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000487896	SCV000529618	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000487896	SCV000575146	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BP7
Ambry Genetics	RCV002318473	SCV000851162	likely benign	Inborn genetic diseases	2016-08-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079749	SCV001029377	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2025-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV004999411	SCV001143321	benign	not specified	2024-02-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000487896	SCV001929733	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487896	SCV001969568	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000487896	SCV002036600	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985346	SCV004726711	likely benign	CACNA1A-related disorder	2019-06-06	no assertion criteria provided	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).