ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)

gnomAD frequency: 0.00016  dbSNP: rs757026025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696771 SCV000825348 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732666 SCV000860643 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000732666 SCV001803827 likely benign not provided 2020-12-17 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
Ambry Genetics RCV002533462 SCV003721590 likely benign Inborn genetic diseases 2022-08-19 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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