Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727814 | SCV000855235 | pathogenic | not provided | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727814 | SCV001825395 | pathogenic | not provided | 2022-05-13 | criteria provided, single submitter | clinical testing | Frameshift variant that results in protein truncation and unstable mRNA in a gene for which loss-of-function is a known mechanism of disease (PMID: 11013136); Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11013136) |
Fulgent Genetics, |
RCV000006554 | SCV002775603 | likely pathogenic | Mitochondrial complex 4 deficiency, nuclear type 4 | 2022-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727814 | SCV003257096 | pathogenic | not provided | 2022-05-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (Splice site) 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). This variant is present in population databases (rs745552237, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with cytochrome c oxidase deficiency and/or SCO1-related conditions (PMID: 11013136). It has also been observed to segregate with disease in related individuals. This variant is also known as c.364_364+1del, △GA; nt 363–364. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000006554 | SCV000026737 | pathogenic | Mitochondrial complex 4 deficiency, nuclear type 4 | 2000-11-01 | no assertion criteria provided | literature only |