ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=)

gnomAD frequency: 0.00001  dbSNP: rs913405402
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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 RCV002187275 SCV002343544 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331683 SCV002631064 likely benign Inborn genetic diseases 2017-09-08 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704697 SCV005209539 likely benign not provided criteria provided, single submitter not provided

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