ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=)

gnomAD frequency: 0.00001  dbSNP: rs371827685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318218 SCV000851489 likely benign Inborn genetic diseases 2017-01-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000906351 SCV001050981 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985422 SCV004765085 likely benign CACNA1A-related disorder 2019-10-07 no assertion criteria provided 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).

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