ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)

gnomAD frequency: 0.00003  dbSNP: rs774884290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810949 SCV000951191 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487763 SCV002791326 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-01-03 criteria provided, single submitter clinical testing
GeneDx RCV003225128 SCV003921660 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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