Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003097563 | SCV003488366 | uncertain significance | Werner syndrome | 2022-02-04 | criteria provided, single submitter | clinical testing | This sequence change affects codon 942 of the WRN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WRN protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs778590283, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WRN-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. |