Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000258945 | SCV003440507 | pathogenic | 3-methylglutaconic aciduria, type VIIB | 2023-01-30 | 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: 279604). This premature translational stop signal has been observed in individual(s) with 3-methylglutaconic aciduria (PMID: 25597510, 27290639). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg250*) in the CLPB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938). |
Gene |
RCV000258945 | SCV000328959 | not provided | 3-methylglutaconic aciduria, type VIIB | no assertion provided | literature only |