Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000000804 | SCV001587705 | pathogenic | Methylmalonic aciduria and homocystinuria type cblD | 2023-03-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 768). This premature translational stop signal has been observed in individual(s) with MMADHC-related conditions (PMID: 18385497). This variant is present in population databases (rs397509363, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr140*) in the MMADHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). |
Revvity Omics, |
RCV000000804 | SCV003819541 | pathogenic | Methylmalonic aciduria and homocystinuria type cblD | 2022-06-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000000804 | SCV004193226 | pathogenic | Methylmalonic aciduria and homocystinuria type cblD | 2023-09-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000804 | SCV000020954 | pathogenic | Methylmalonic aciduria and homocystinuria type cblD | 2008-04-03 | no assertion criteria provided | literature only | |
Natera, |
RCV000000804 | SCV002083919 | pathogenic | Methylmalonic aciduria and homocystinuria type cblD | 2020-09-04 | no assertion criteria provided | clinical testing |