Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002715795 | SCV003008048 | pathogenic | Progressive sclerosing poliodystrophy | 2023-08-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln60*) in the POLG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLG are known to be pathogenic (PMID: 18546365). ClinVar contains an entry for this variant (Variation ID: 1961036). For these reasons, this variant has been classified as Pathogenic. |
| Athena Diagnostics | RCV003482419 | SCV004229881 | likely pathogenic | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |
| Baylor Genetics | RCV002715795 | SCV005056567 | likely pathogenic | Progressive sclerosing poliodystrophy | 2024-03-06 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005008709 | SCV005633442 | likely pathogenic | Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b | 2024-04-23 | criteria provided, single submitter | clinical testing |