ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)

gnomAD frequency: 0.00016  dbSNP: rs147646714
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543602 SCV000653698 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000602152 SCV000726027 likely benign not specified 2017-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV001172223 SCV001335217 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002506367 SCV002807805 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-12-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451209 SCV004177622 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451210 SCV004177623 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458462 SCV004177624 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451208 SCV004177626 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935510 SCV004752829 likely benign CACNA1S-related condition 2024-01-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003451209 SCV004823275 likely benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing

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