Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800242 | SCV000939942 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495065 | SCV002781681 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 2022-04-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003489884 | SCV004234912 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003517269 | SCV004360365 | uncertain significance | Malignant hyperthermia, susceptibility to, 5 | 2022-11-06 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with cysteine at codon 865 of the CACNA1S protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). 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 27/282788 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. |