ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1256G>A (p.Arg419Gln)

gnomAD frequency: 0.00001  dbSNP: rs866035995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002149800 SCV002420600 likely benign not provided 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161530 SCV003909598 likely benign Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genome-Nilou Lab RCV003458837 SCV004179587 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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