Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018677 | SCV001179942 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-26 | criteria provided, single submitter | clinical testing | The p.Q104* pathogenic mutation (also known as c.310C>T), located in coding exon 3 of the SDHA gene, results from a C to T substitution at nucleotide position 310. This changes the amino acid from a glutamine to a stop codon within coding exon 3. 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. |
| Labcorp Genetics |
RCV001383484 | SCV001582635 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln104*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 822909). For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV004030417 | SCV004933668 | pathogenic | Paragangliomas 5 | 2024-02-07 | 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. |