ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)

gnomAD frequency: 0.00001  dbSNP: rs747917423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548010 SCV000656752 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001591298 SCV001822586 uncertain significance not provided 2020-04-10 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, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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