Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043253 | SCV001206978 | pathogenic | not provided | 2019-04-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant has been observed in an individual affected with methylmalonic aciduria (PMID: 7627195). This variant is also known as c.1952del13 in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly626Glufs*18) in the MUT gene. It is expected to result in an absent or disrupted protein product. |