Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485612 | SCV000566130 | pathogenic | not provided | 2015-04-17 | criteria provided, single submitter | clinical testing | The c.261delC variant in the SCO1 gene is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay. Although this variant has not been reportedpreviously to our knowledge, it is expected to be pathogenic. |
Fulgent Genetics, |
RCV001536014 | SCV001752694 | likely pathogenic | Mitochondrial complex 4 deficiency, nuclear type 4 | 2022-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000485612 | SCV003289996 | pathogenic | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser88Argfs*11) in the SCO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCO1 are known to be pathogenic (PMID: 11013136, 23878101). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SCO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 418798). For these reasons, this variant has been classified as Pathogenic. |