Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003472627 | SCV004200665 | likely pathogenic | Dilated cardiomyopathy 1GG | 2022-09-06 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003738473 | SCV004565211 | pathogenic | not provided | 2023-07-13 | criteria provided, single submitter | clinical testing | The SDHA c.168del; p.Val57Ter variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in individuals with GIST and are considered pathogenic (Pantaleo 2022). Based on available information, this variant is considered to be pathogenic. References: Pantaleo MA et al. SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor. Front Oncol. 2022 Jan 4;11:778461. PMID: 35059314. |
| Labcorp Genetics |
RCV003779110 | SCV004576218 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val57*) 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. For these reasons, this variant has been classified as Pathogenic. |