ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)

gnomAD frequency: 0.00039  dbSNP: rs199886234
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000653359 SCV000521005 benign not provided 2019-06-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23869231, 21703448, 28488083)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000439336 SCV000538549 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is present in ExAC with a MaxMAF of 0.06%. It is predicted to be pathogenic by predictive tools. It is not present in ClinVar. It has been seen in 1 patient with congenital hyperinsulinism and 1 with epilepsy.
Eurofins Ntd Llc (ga) RCV000439336 SCV000708577 benign not specified 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001083556 SCV000775238 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318412 SCV000850526 likely benign Inborn genetic diseases 2017-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Mendelics RCV000990165 SCV001141008 benign Episodic ataxia type 2 2023-08-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000653359 SCV001143338 benign not provided 2019-06-17 criteria provided, single submitter clinical testing

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