Submissions for variant NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)

gnomAD frequency: 0.00114  dbSNP: rs16009

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247429	SCV000306688	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000247429	SCV000525522	benign	not specified	2016-08-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000247429	SCV000708513	benign	not specified	2017-05-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083550	SCV000775246	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317782	SCV000849745	benign	Inborn genetic diseases	2016-03-23	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.
Athena Diagnostics	RCV000653367	SCV001143310	benign	not provided	2019-03-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000653367	SCV002543888	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002503933	SCV002801152	likely benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2022-03-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000653367	SCV005315309	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000653367	SCV001926473	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000653367	SCV001972033	likely benign	not provided		no assertion criteria provided	clinical testing