ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3667-5C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004014958 SCV004826452 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-08-15 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -5 position of intron 29 of the CACNA1S gene. 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 1/249148 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.
Fulgent Genetics, Fulgent Genetics RCV005003751 SCV005630624 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-05-18 criteria provided, single submitter clinical testing

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