Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000033050 | SCV000807220 | pathogenic | Combined oxidative phosphorylation defect type 15 | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant in a 12-year-old female with mitochondrial disorder, Leigh disease, intellectual disability, short stature, microcephaly, PDA, brachydactyly, pes planus, congenital hypothyroidism |
| DASA | RCV000033050 | SCV002073753 | likely pathogenic | Combined oxidative phosphorylation defect type 15 | 2022-02-05 | criteria provided, single submitter | clinical testing | The c.374C>T;p.(Ser125Leu) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar: 39829; PMID: 21907147) - PS4_supporting. The variant is present at low allele frequencies population databases (rs397514614 – gnomAD 0.00004013%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Ser125Leu) was detected in trans with a pathogenic variant (PMID: 21907147) - PM3_strong. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic. |
| OMIM | RCV000033050 | SCV000056830 | pathogenic | Combined oxidative phosphorylation defect type 15 | 2011-09-07 | no assertion criteria provided | literature only |