Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000649407 | SCV000771235 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2018-02-06 | criteria provided, single submitter | clinical testing | 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys517Glufs*86) in the SDHA gene. It is expected to result in an absent or disrupted protein product. |