Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001245145 | SCV001418415 | uncertain significance | RYR1-Related Disorders | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003514492 | SCV004358207 | uncertain significance | Malignant hyperthermia, susceptibility to, 1 | 2023-07-10 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with isoleucine at codon 4168 of the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR1-related disorders in the literature. This variant has not been identified 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. |