ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)

gnomAD frequency: 0.00002  dbSNP: rs138265497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419892 SCV000524684 uncertain significance not provided 2023-07-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported as a variant of uncertain significance in one individual from a cohort of patients with suspected malignant hyperthermia (Hudig et al., 2019); This variant is associated with the following publications: (PMID: 30864471)
CeGaT Center for Human Genetics Tuebingen RCV000419892 SCV001150574 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV001243309 SCV001416457 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-07 criteria provided, single submitter clinical testing

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