Congenital Anomalies Cluster Variant of Uncertain Significance Submission

VUS submission portal

Do you have a variant of uncertain significance (VUS) that you believe is causative, but don’t have enough evidence?

Part of the remit of the Congenital Anomalies Cluster is to help clinicians and researchers establish genetic diagnoses by modelling VUS in mice. Our submissions portal is open to clinicians and researchers worldwide.

Submitted Variants of Uncertain Significance (VUS) will be assessed by our Clinical Advisory Board (CAB; see below) who will meet at least twice a year.

They will consider and rank the submitted VUS based on the following Congenital Anomalies Cluster priorities (in order of importance):

1. New disease gene
2. Known disease gene, but new phenotype association or novel allelic disorder
3. Known disease gene with difficult to interpret VUS, eg nearby SV, deep intronic SNV
4. Known disease gene where deep phenotypic investigation of the mouse model could lead to new insights into pathogenic mechanisms

• Contributing teams are ideally clinically led or with strong clinical engagement, in order to efficiently return diagnostic information and enable further assessment of patient phenotypes.
• The clinical features of your patient should be present at birth and overlap with the specialities of our developmental biology team: craniofacial, skeletal, heart, neural tube, kidney, ciliopathies.
• More weight will be given to syndromic conditions to simultaneously study multiple systems in the mouse.

To submit a VUS, please visit the submissions portal.