Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000813142 | SCV000953487 | uncertain significance | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2018-10-30 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with SDHA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SDHA gene (p.Trp622*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acids of the SDHA protein. |
| Department of Pediatrics, |
RCV001523817 | SCV001478178 | likely pathogenic | Paragangliomas 5 | 2020-12-15 | criteria provided, single submitter | research | |
| Gene |
RCV002462179 | SCV002757296 | likely pathogenic | not provided | 2022-05-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation as the last 43 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with personal history of gastrointestinal stromal tumor (Fiala 2021); This variant is associated with the following publications: (PMID: 34308366, 23633203, 28873162) |