ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)

gnomAD frequency: 0.00014  dbSNP: rs376684786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000534550 SCV000727497 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000534550 SCV001151702 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001505365 SCV001710263 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341460 SCV002641231 likely benign Inborn genetic diseases 2017-10-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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