Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV000236383 | SCV000256846 | pathogenic | Propionic acidemia | 2012-01-01 | criteria provided, single submitter | research | |
Laboratory of Inherited Metabolic Diseases, |
RCV000236383 | SCV001482005 | pathogenic | Propionic acidemia | 2021-02-17 | criteria provided, single submitter | research | PS3, PM2, PM3_supportive, PP3, PP4 |
Invitae | RCV000236383 | SCV003442770 | uncertain significance | Propionic acidemia | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 15 of the PCCA gene. It does not directly change the encoded amino acid sequence of the PCCA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs764045674, gnomAD 0.01%). This variant has been observed in individual(s) with propionic acidemia (PMID: 25636094, 27227689). ClinVar contains an entry for this variant (Variation ID: 254165). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Baylor Genetics | RCV000236383 | SCV004202850 | likely pathogenic | Propionic acidemia | 2023-09-15 | criteria provided, single submitter | clinical testing |