Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001897905 | SCV002156997 | uncertain significance | Hyperprolinemia type 2 | 2021-10-31 | criteria provided, single submitter | clinical testing | This sequence change affects codon 253 of the ALDH4A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALDH4A1 protein. This variant is present in population databases (rs535815477, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALDH4A1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. |