Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002391669 | SCV002696540 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-07 | criteria provided, single submitter | clinical testing | The p.E472* pathogenic mutation (also known as c.1414G>T), located in coding exon 10 of the SDHA gene, results from a G to T substitution at nucleotide position 1414. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. This variant was not reported in population-based 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. |
Invitae | RCV003095123 | SCV003328803 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-10-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu472*) 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: 1772107). For these reasons, this variant has been classified as Pathogenic. |