ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)

gnomAD frequency: 0.11927  dbSNP: rs16016
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116516 SCV000306691 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116516 SCV000519200 benign not specified 2016-01-08 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.
Athena Diagnostics Inc RCV000116516 SCV000841248 benign not specified 2021-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312048 SCV000845855 benign Inborn genetic diseases 2016-02-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV001511465 SCV001718714 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116516 SCV000150465 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116516 SCV001956407 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000116516 SCV001976036 benign not specified no assertion criteria provided clinical testing

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