Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514970 | SCV000610289 | uncertain significance | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671507 | SCV000796490 | uncertain significance | Methylmalonic aciduria, cblB type | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000671507 | SCV002800763 | uncertain significance | Methylmalonic aciduria, cblB type | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671507 | SCV003520215 | likely pathogenic | Methylmalonic aciduria, cblB type | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 174 of the MMAB protein (p.Ser174Leu). This variant is present in population databases (rs140881518, gnomAD 0.04%). This missense change has been observed in individual(s) with MMAB-related conditions (PMID: 16410054, 23707710, 34796408; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 445684). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Baylor Genetics | RCV000671507 | SCV004193137 | likely pathogenic | Methylmalonic aciduria, cblB type | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Baumgartner lab, |
RCV000671507 | SCV001738794 | pathogenic | Methylmalonic aciduria, cblB type | 2021-06-01 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000671507 | SCV002088693 | uncertain significance | Methylmalonic aciduria, cblB type | 2020-04-07 | no assertion criteria provided | clinical testing |