ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)

gnomAD frequency: 0.00003  dbSNP: rs760674518
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519296 SCV000621443 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing Reported in family with malignant hyperthermia susceptibiilty; however, variant did not co-segregate with condition in family (Tammaro et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31851124, 20681998)
Labcorp Genetics (formerly Invitae), Labcorp RCV001225189 SCV001397429 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-10-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000519296 SCV001713927 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010484 SCV005630848 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-05-13 criteria provided, single submitter clinical testing

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