ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1150+1G>T

dbSNP: rs2149398895
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886816 SCV002162159 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-11-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1388733). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 of the MOCS1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MOCS1 protein in which other variant(s) (p.Glu503Alafs*103) have been determined to be pathogenic (PMID: 9921896; Invitae; SOURCE: 9731530). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.
Baylor Genetics RCV001886816 SCV004193264 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-05-23 criteria provided, single submitter clinical testing

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.