ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)

dbSNP: rs143202536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442859 SCV000536643 uncertain significance not provided 2021-04-13 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
Invitae RCV000706844 SCV000835918 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488987 SCV002789859 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-05-09 criteria provided, single submitter clinical testing

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