Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001880727 | SCV002144736 | uncertain significance | Pancreatic adenocarcinoma | 2021-10-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This sequence change affects codon 120 of the PALLD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PALLD protein. |
Ambry Genetics | RCV004837817 | SCV005463905 | likely benign | not specified | 2024-11-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |