Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV000235559 | SCV000256845 | pathogenic | Propionic acidemia | 2013-01-01 | criteria provided, single submitter | research | |
Counsyl | RCV000235559 | SCV000796487 | pathogenic | Propionic acidemia | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000235559 | SCV002016538 | pathogenic | Propionic acidemia | 2022-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000235559 | SCV004296513 | pathogenic | Propionic acidemia | 2023-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu397Valfs*51) 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). This variant is present in population databases (rs779726158, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with propionic acidemia (PMID: 9887338, 27227689). This variant is also known as 1115del4. ClinVar contains an entry for this variant (Variation ID: 218254). For these reasons, this variant has been classified as Pathogenic. |