Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000397402 | SCV000353172 | uncertain significance | Hypokalemic periodic paralysis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000307110 | SCV000353173 | uncertain significance | Malignant hyperthermia of anesthesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000651213 | SCV000773064 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the CACNA1S gene. It does not directly change the encoded amino acid sequence of the CACNA1S protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs764710968, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA1S-related conditions. ClinVar contains an entry for this variant (Variation ID: 294779). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000835462 | SCV000977255 | likely benign | not provided | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000835462 | SCV001150576 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | CACNA1S: PM2, BP4 |
Color Diagnostics, |
RCV003517183 | SCV004360413 | uncertain significance | Malignant hyperthermia, susceptibility to, 5 | 2023-05-09 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the +3 position of intron 3 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 12/251482 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. |
All of Us Research Program, |
RCV003517183 | SCV004817886 | uncertain significance | Malignant hyperthermia, susceptibility to, 5 | 2024-07-29 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the +3 position of intron 3 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 12/251482 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, |
RCV005008271 | SCV005635401 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 | 2024-03-02 | criteria provided, single submitter | clinical testing |