Description
This variant is denoted VHL c.589G>C at the cDNA level, p.Asp197His (D197H) at the protein level, and results in the change of an Aspartic Acid to a Histidine (GAC>CAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. VHL Asp197His was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Aspartic Acid and Histidine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. VHL Asp197His occurs at a position that is conserved across species and is located within the beta domain (Yuen 2009). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether VHL Asp197His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
