Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000767252 | SCV000897799 | uncertain significance | Von Hippel-Lindau syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440591 | SCV002747104 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-09 | criteria provided, single submitter | clinical testing | The p.Q96P variant (also known as c.287A>C), located in coding exon 1 of the VHL gene, results from an A to C substitution at nucleotide position 287. The glutamine at codon 96 is replaced by proline, an amino acid with similar properties. This alteration was identified in a VHL cohort (Maher ER et al. J. Med. Genet., 1996 Apr;33:328-32). This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. In addition, this variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |