Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000199457 | SCV000252232 | uncertain significance | not provided | 2017-10-02 | criteria provided, single submitter | clinical testing | p.Thr144Ala (CGG>GGG): c.430 A>G in exon 3 of the SCO1 gene (NM_004589.2). The T144A variant in the SCO1 gene is of unknown significance. The T144A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Mutations in the SCO1 gene are associated with autosomal recessive cytochrome oxidase deficiency. The T144A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. However, multiple in-silico splice prediction models predict that the c.430 A>G nucleotide substitution responsible for T144A, creates a cryptic splice acceptor site. However, the true effect of c.430 A>G on splicing in vivo is not known without functional studies. Therefore, based on the currently available information, it is unclear whether the T144A (c.430 A>G) variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
| Fulgent Genetics, |
RCV002478692 | SCV002778483 | uncertain significance | Mitochondrial complex 4 deficiency, nuclear type 4 | 2022-05-09 | criteria provided, single submitter | clinical testing |