Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067639 | SCV001232708 | pathogenic | Methylmalonic aciduria, cblB type | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the MMAB mRNA. The next in-frame methionine is located at codon 202. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with a positive newborn screening result for MMAB-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 861176). This variant disrupts a region of the MMAB protein in which other variant(s) (p.Arg191Gln) have been determined to be pathogenic (PMID: 16410054, 23707710, 27591164). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |