ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.364_364+1del

dbSNP: rs587776629
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727814 SCV000855235 pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing
GeneDx 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, 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.