Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, |
RCV000006491 | SCV002769269 | pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 6 of 11). (P) 0252 - Variant is homozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0702 - Comparable variants have strong previous evidence for pathogenicity. At least other 7 variants predicted to result in NMD have been reported pathogenic (PMID: 21031595; PMID: 27289259). (P) 0803 - Low previous evidence of pathogenicity in unrelated individuals. At least two patients with Molybdenum cofactor deficiency A have been reported homozygous (PMID: 9731530; PMID: 27289259). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1205 - Variant is maternally and paternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
| OMIM | RCV000006491 | SCV000026674 | pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1998-09-01 | no assertion criteria provided | literature only |