Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998353 | SCV001154366 | likely pathogenic | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001066391 | SCV001231398 | pathogenic | Methylcobalamin deficiency type cblE | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys109Argfs*2) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. ClinVar contains an entry for this variant (Variation ID: 809730). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003461302 | SCV004198771 | likely pathogenic | Neural tube defects, folate-sensitive | 2023-03-29 | criteria provided, single submitter | clinical testing |