Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387772 | SCV001588487 | pathogenic | 3-methylglutaconic aciduria, type VIIB | 2020-03-31 | criteria provided, single submitter | clinical testing | Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938). This variant has been observed in individual(s) with CLPB deficiency (PMID: 28687938). This variant is present in population databases (rs774722200, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Asp462Argfs*11) in the CLPB gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |