ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)

gnomAD frequency: 0.00003  dbSNP: rs756780624
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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 RCV000705442 SCV000834439 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091781 SCV001247991 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001091781 SCV001991471 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
PreventionGenetics, part of Exact Sciences RCV003985413 SCV004709441 likely benign CACNA1A-related disorder 2023-03-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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