ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)

gnomAD frequency: 0.00016  dbSNP: rs370541345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585328 SCV000524726 likely benign not provided 2020-05-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000585328 SCV000612530 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585328 SCV000692950 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
Invitae RCV001084768 SCV001091928 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450997 SCV002616231 likely benign Inborn genetic diseases 2018-09-30 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.

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