ClinVar Miner

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

gnomAD frequency: 0.00114  dbSNP: rs16009
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Total submissions: 10
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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
Invitae 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 2024-02-01 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
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

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