Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001565395 | SCV001788734 | likely pathogenic | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV003771723 | SCV004653665 | pathogenic | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2023-06-16 | 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: 1200382). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Val119Glufs*4) in the SUCLA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUCLA2 are known to be pathogenic (PMID: 15877282, 17301081). |