Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054516 | SCV001218834 | uncertain significance | Fanconi anemia | 2019-02-13 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is present in population databases (rs780854919, ExAC 0.002%). This sequence change affects codon 758 of the SLX4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLX4 protein. |
Prevention |
RCV003963015 | SCV004781758 | likely benign | SLX4-related disorder | 2024-01-09 | 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). |