ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1156C>T (p.Leu386=)

gnomAD frequency: 0.00001  dbSNP: rs575134797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465813 SCV001669809 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2018-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970484 SCV004788229 likely benign CACNA1S-related disorder 2021-11-12 no assertion criteria provided 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).

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