Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004385 | SCV001163357 | likely pathogenic | Propionic acidemia | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001004385 | SCV004429505 | pathogenic | Propionic acidemia | 2023-01-03 | 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: 813433). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. This sequence change creates a premature translational stop signal (p.Ala14Profs*12) 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 not present in population databases (gnomAD no frequency). |