ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)

gnomAD frequency: 0.00016  dbSNP: rs147112322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485685 SCV000572084 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing Reported previously in an individual with susceptibility to malignant hyperthermia who also harbored another CACNA1S variant, as well as a variant in RYR1 (Gillies et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25735680)
Invitae RCV000697159 SCV000825755 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288113 SCV001474979 benign not specified 2020-04-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001724025 SCV001950008 uncertain significance Malignant hyperthermia, susceptibility to, 5 2021-08-03 criteria provided, single submitter clinical testing

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