ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)

gnomAD frequency: 0.00002  dbSNP: rs376365775
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724751 SCV000227638 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000724751 SCV000526723 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31719132)
Athena Diagnostics RCV000176046 SCV000612532 uncertain significance not specified 2017-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001048020 SCV001212009 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724751 SCV003830287 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing

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