Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815111 | SCV000955555 | uncertain significance | Pyruvate carboxylase deficiency | 2018-07-30 | criteria provided, single submitter | clinical testing | This sequence change affects codon 504 of the PC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PC protein. This variant is present in population databases (rs763298490, ExAC 0.006%). This variant has not been reported in the literature in individuals with PC-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |
Ce |
RCV003222142 | SCV003916738 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PC: BP4, BP7 |
Prevention |
RCV003955524 | SCV004770586 | likely benign | PC-related condition | 2020-02-19 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |