ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)

dbSNP: rs201310235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801799 SCV000941595 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV002282371 SCV002571623 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002495076 SCV002781824 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-03-24 criteria provided, single submitter clinical testing

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