ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=)

gnomAD frequency: 0.00002  dbSNP: rs374660431
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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 RCV000651262 SCV000773113 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-06-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004095 SCV004830947 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-07-10 criteria provided, single submitter clinical testing This variant is located in the CACNA1S protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CACNA1S-related disorders in the literature. This variant has been identified in 3/280856 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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