Description
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. JUP p.Asp708Asn Given the lack of gene-phenotype relationship, the lack of case data, and the presence (albeit rare) in unselected individuals, we consider this variant a variant of uncertain significance. JUP has been associated with ARVC. It is one of the less frequent ARVC genes. To the best of our knowledge the variant is novel. In silico analyses with various programs are inconsistent in their predictions. The variant was reported online in 4 of 59,850 individuals in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of July 21, 2015). Specifically, the variant was observed in 3 of 8035 individuals of South Asian descent. The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease. Note that other variants with strong evidence for pathogenicity have been seen at similar frequencies in datasets like this so this does not necessarily rule out pathogenicity (Pan et al 2012).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | not provided | not provided | not provided | not provided | | 1 | not provided | not provided | not provided |
