Total submissions: 2
| 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 |