ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)

gnomAD frequency: 0.00009  dbSNP: rs369742607
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525516 SCV000656756 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000710950 SCV000728060 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710950 SCV000841265 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456255 SCV002615334 likely benign Inborn genetic diseases 2020-06-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000710950 SCV003830275 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing

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