ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)

gnomAD frequency: 0.00006  dbSNP: rs771423362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710942 SCV000571408 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31719132)
Athena Diagnostics RCV000710942 SCV000841254 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. Computational tools predict that this variant is not damaging.
Labcorp Genetics (formerly Invitae), Labcorp RCV001337615 SCV001531222 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-13 criteria provided, single submitter clinical testing

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