Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174236 | SCV000225503 | pathogenic | not provided | 2013-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001041557 | SCV001205181 | pathogenic | Propionic acidemia | 2022-10-06 | 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: 92760). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys342*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). |