ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)

gnomAD frequency: 0.00008  dbSNP: rs377458008
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600114 SCV000727266 likely benign not specified 2018-02-02 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 RCV001079207 SCV001039645 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000895596 SCV001143309 benign not provided 2019-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002385935 SCV002697642 likely benign Inborn genetic diseases 2017-09-11 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.
PreventionGenetics, part of Exact Sciences RCV003985394 SCV004749634 likely benign CACNA1A-related disorder 2019-06-24 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000895596 SCV001798942 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000895596 SCV001970401 likely benign not provided no assertion criteria provided clinical testing

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