Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812601 | SCV000952919 | uncertain significance | Cowden syndrome | 2022-01-12 | 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. ClinVar contains an entry for this variant (Variation ID: 656234). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is present in population databases (rs367754244, gnomAD 0.0009%). This sequence change affects codon 161 of the PIK3CA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PIK3CA protein. |