ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=)

gnomAD frequency: 0.00006  dbSNP: rs372090886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606291 SCV000721551 likely benign not provided 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317355 SCV000849739 likely benign Inborn genetic diseases 2017-05-31 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 RCV000921507 SCV001066911 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985390 SCV004775125 likely benign CACNA1A-related disorder 2019-07-12 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).

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