Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857291 | SCV002245666 | pathogenic | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 441075). This premature translational stop signal has been observed in individual(s) with ACO2-related conditions (PMID: 30689204). This variant is present in population databases (rs751460831, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg58*) in the ACO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACO2 are known to be pathogenic (PMID: 30689204, 32519519). |
Genome |
RCV000509125 | SCV000607164 | not provided | ACO2-related disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |