Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000627375 | SCV000748369 | likely pathogenic | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | The R594X variant in the MTRR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R594X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R594X as a likely pathogenic variant. |
| Labcorp Genetics |
RCV001834982 | SCV002222784 | pathogenic | Methylcobalamin deficiency type cblE | 2023-05-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg594*) in the MTRR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 523899). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Baylor Genetics | RCV003465365 | SCV004196491 | likely pathogenic | Neural tube defects, folate-sensitive | 2024-03-28 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001834982 | SCV002077218 | likely pathogenic | Methylcobalamin deficiency type cblE | 2020-08-07 | no assertion criteria provided | clinical testing |