Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001993135 | SCV002231690 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2022-09-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1451165). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This sequence change creates a premature translational stop signal (p.Ser8*) 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). |
| Ambry Genetics | RCV003303493 | SCV004001106 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-20 | criteria provided, single submitter | clinical testing | The p.S8* pathogenic mutation (also known as c.23C>A), located in coding exon 1 of the SDHA gene, results from a C to A substitution at nucleotide position 23. This changes the amino acid from a serine to a stop codon within coding exon 1. 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. |