Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494517 | SCV000581967 | uncertain significance | not provided | 2024-03-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV000688405 | SCV000816015 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262359 | SCV001440192 | uncertain significance | Hypokalemic periodic paralysis, type 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005004190 | SCV002786270 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 | 2024-02-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003478 | SCV004815286 | uncertain significance | Malignant hyperthermia, susceptibility to, 5 | 2024-09-23 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with histidine at codon 683 of the CACNA1S protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 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 11/282318 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. |