Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236314 | SCV001409034 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-01-28 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with gastrointestinal stromal tumors (PMID: 23060355). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 962458). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln54*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). |
Gene |
RCV001565032 | SCV001788298 | pathogenic | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25394176, 22974104, 24886695, 30201732, 23060355) |