ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)

gnomAD frequency: 0.00004  dbSNP: rs200848930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379008 SCV000352934 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287248 SCV000352935 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000692277 SCV000820091 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711148 SCV000841476 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000711148 SCV001825080 uncertain significance not provided 2021-06-01 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; This variant is associated with the following publications: (PMID: 26582918, 27535533)

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