Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058780 | SCV001223372 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the CACNA1S gene (p.Gln1865Argfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the CACNA1S protein and extend the protein by 9 additional amino acid residues. This variant is present in population databases (rs139276856, gnomAD 0.08%). 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: 853874). 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. |
Mayo Clinic Laboratories, |
RCV003480939 | SCV004224762 | uncertain significance | not provided | 2022-02-07 | criteria provided, single submitter | clinical testing |