Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000706931 | SCV000836006 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2018-01-06 | 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.Gln294*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002442539 | SCV002682671 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-07-21 | criteria provided, single submitter | clinical testing | The p.Q294* pathogenic mutation (also known as c.880C>T), located in coding exon 7 of the SDHA gene, results from a C to T substitution at nucleotide position 880. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003316801 | SCV004018418 | pathogenic | Paragangliomas 5 | 2023-02-07 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |