ClinVar Miner

Submissions for variant NM_001127221.2(CACNA1A):c.5555T>C (p.Met1852Thr)

gnomAD frequency: 0.00006  dbSNP: rs368791169
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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 RCV001369302 SCV001565736 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-24 criteria provided, single submitter clinical testing
GeneDx RCV002285480 SCV002575532 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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