ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)

gnomAD frequency: 0.00008  dbSNP: rs201269793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497966 SCV000590308 uncertain significance not provided 2023-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002318605 SCV000850589 likely benign Inborn genetic diseases 2023-08-28 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.
Fulgent Genetics, Fulgent Genetics RCV000764179 SCV000895181 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001851379 SCV002122517 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-24 criteria provided, single submitter clinical testing

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