Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001381600 | SCV001580049 | pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the MUT gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant has not been reported in the literature in individuals affected with MUT-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000794829 | SCV000934261 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2019-01-12 | flagged submission | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the MUT gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MUT-related conditions. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic. |