PPM - Variant of Uncertain Significance (VUS) Result Updating-Checklist

Checklist

Pdf Summary

This checklist provides guidance on updating the results of a Variant of Uncertain Significance (VUS) in a patient's report. It includes several steps to ensure that all necessary information is considered and recorded during patient visits. <br /><br />The checklist includes the following points: <br />- Checking if the report was issued more than 6 months ago<br />- Considering testing other family members to help clarify the potential significance of the variant<br />- Updating the patient's clinical status, including any additional clinical features or family history <br />- Checking if there were any additional clinical features in the patient <br />- Verifying if the updated patient information matches the phenotype associated with the gene containing the VUS <br />- Checking various databases for updated gene and variant information <br />- Searching for variant(s) in ClinVar, LOVD, PubMed, and Google/Google Scholar <br />- Checking the DECIPHER database for CNV VUS <br />- Checking for updated variant frequency information in population databases like gnomAD and DGV <br />- Contacting the reporting lab to discuss any new information or updates on the VUS <br />- Documenting the VUS update and new management plan in the patient's medical record <br />- Determining if the new information about the VUS impacts the patient's management <br />- Discussing the new information and management plan with the patient <br />- Submitting the information on the case to ClinVar if novel data was obtained. <br /><br />By following this checklist, healthcare professionals can ensure that they have considered all available information and made informed decisions regarding VUS results for their patients.

Keywords

checklist

Variant of Uncertain Significance

VUS

patient's report

updating

clinical status

family history

gene

databases

ClinVar