Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462116 | SCV000553839 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg329*) 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: 412328). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001019810 | SCV001181215 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-26 | criteria provided, single submitter | clinical testing | The p.R329* pathogenic mutation (also known as c.985C>T), located in coding exon 8 of the SDHA gene, results from a C to T substitution at nucleotide position 985. This changes the amino acid from an arginine to a stop codon within coding exon 8. 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. |