ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)

gnomAD frequency: 0.00001  dbSNP: rs375958273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218404 SCV001390286 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001586061 SCV001821172 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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