Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001381899 | SCV001580473 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-09-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu82*) 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: 1069906). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002456598 | SCV002736019 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.242_243insA pathogenic mutation, located in coding exon 3 of the SDHA gene, results from an insertion of one nucleotide at position 242, causing a translational frameshift with a predicted alternate stop codon (p.E82*). 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, |
RCV003148988 | SCV003836633 | pathogenic | Paragangliomas 5 | 2023-01-31 | 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478808 | SCV004220300 | likely pathogenic | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | The SDHA c.242_243insA (p.Glu82*) variant is predicted to cause the premature termination of SDHA protein synthesis. This variant has not been reported in individuals with SDHA-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic. |