Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642156 | SCV000763810 | likely pathogenic | Methylmalonic aciduria, cblB type | 2017-12-04 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 4-7 of the MMAB gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with MMAB-related disease. A missense substitution located in the deleted region (p.Arg191Trp) has been determined to be pathogenic (PMID: 27591164, 16439175, 12471062, 17957493, 20556797). This suggests that the deleted region is critical for MMAB protein function. 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. |