Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000687626 | SCV000815205 | pathogenic | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2018-04-08 | criteria provided, single submitter | clinical testing | Loss-of-function variants in CACNA1S are known to be pathogenic (PMID: 26247046, 28012042). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CACNA1S-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn599Thrfs*13) in the CACNA1S gene. It is expected to result in an absent or disrupted protein product. |