ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)

gnomAD frequency: 0.00003  dbSNP: rs372359926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421955 SCV000533080 likely benign not specified 2016-10-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001482367 SCV001686733 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-04-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311817 SCV004011030 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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