ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=)

gnomAD frequency: 0.00003  dbSNP: rs1246140836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611342 SCV000725891 likely benign not specified 2017-12-21 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 RCV001406893 SCV001608852 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985392 SCV004758751 likely benign CACNA1A-related disorder 2019-11-20 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000611342 SCV004804127 likely benign not specified 2024-01-04 criteria provided, single submitter clinical testing

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