Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058669 | SCV001223256 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2022-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 557 of the CACNA1S protein (p.Arg557Cys). This variant is present in population databases (rs756612471, 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: 853787). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1S protein function. 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 |
RCV002284460 | SCV002574465 | uncertain significance | not provided | 2022-03-15 | criteria provided, single submitter | clinical testing | Reported in a patient with paramyotonia and periodic paralysis in published literature (Razzino et al., 2021); this variant is also reported to segregate in patient's similarly affected mother but details are limited; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Razzino_2021_abstract) |
Genome- |
RCV003455268 | SCV004179027 | uncertain significance | Malignant hyperthermia, susceptibility to, 5 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003456186 | SCV004179028 | uncertain significance | Thyrotoxic periodic paralysis, susceptibility to, 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003458611 | SCV004179029 | uncertain significance | Congenital myopathy 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003456185 | SCV004179030 | uncertain significance | Hypokalemic periodic paralysis, type 1 | 2023-04-11 | criteria provided, single submitter | clinical testing |