ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)

dbSNP: rs35534614
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514356 SCV000609526 likely benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081811 SCV000653736 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000514356 SCV001780374 uncertain significance not provided 2022-05-02 criteria provided, single submitter clinical testing Reported previously in an individual in published literature who did not have a personal or family history of a CACNA1S-related disorder (Gonsalves et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24195946)
Color Diagnostics, LLC DBA Color Health RCV003517213 SCV004360404 likely benign Malignant hyperthermia, susceptibility to, 5 2022-09-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935341 SCV004753899 likely benign CACNA1S-related disorder 2023-03-19 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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