Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063216 | SCV001228053 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2019-12-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr156*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). This variant has not been reported in the literature in individuals with SDHA-related conditions. This variant is not present in population databases (ExAC no frequency). |