Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672652 | SCV000797778 | likely pathogenic | Propionic acidemia | 2018-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672652 | SCV002152079 | pathogenic | Propionic acidemia | 2023-05-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 556623). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with propionic aciduria (PMID: 27489777). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln23Hisfs*2) 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). |
Baylor Genetics | RCV000672652 | SCV004202873 | pathogenic | Propionic acidemia | 2023-06-19 | criteria provided, single submitter | clinical testing |