Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000182600 | SCV000234958 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | The c.14304-6 C>A variant in the RYR1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.14304-6 C>A splice site variant damages the natural splice acceptor site in intron 98. In silico algorithms predict this variant may result in abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.14304-6 C>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.14304-6 C>A as a variant of unknown significance. This variant has been observed to be maternally inherited. The variant is found in RYR1 panel(s). |
| Labcorp Genetics |
RCV000702407 | SCV000831260 | likely benign | RYR1-related disorder | 2023-12-28 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002485210 | SCV002783311 | uncertain significance | Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome | 2021-09-09 | criteria provided, single submitter | clinical testing |