Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001385763 | SCV001585725 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2020-08-11 | 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln27*) in the SDHA gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002420861 | SCV002678617 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-22 | criteria provided, single submitter | clinical testing | The p.Q27* pathogenic mutation (also known as c.79C>T), located in coding exon 2 of the SDHA gene, results from a C to T substitution at nucleotide position 79. This changes the amino acid from a glutamine to a stop codon within coding exon 2. 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. |