ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)

dbSNP: rs200333359
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494232 SCV000583061 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000764180 SCV000895182 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
Athena Diagnostics RCV000494232 SCV001143326 uncertain significance not provided 2018-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001212290 SCV001383870 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000494232 SCV002543883 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing CACNA1A: PP2
Revvity Omics, Revvity RCV000494232 SCV003830267 uncertain significance not provided 2020-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023314 SCV004916239 likely benign Inborn genetic diseases 2023-12-28 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.

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