Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079209 | SCV000111079 | likely pathogenic | not provided | 2012-08-02 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000767256 | SCV000897803 | uncertain significance | Von Hippel-Lindau syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000767256 | SCV001136312 | likely pathogenic | Von Hippel-Lindau syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321574 | SCV002610885 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-05 | criteria provided, single submitter | clinical testing | The p.I109N variant (also known as c.326T>A), located in coding exon 1 of the VHL gene, results from a T to A substitution at nucleotide position 326. The isoleucine at codon 109 is replaced by asparagine, an amino acid with dissimilar properties. This alteration has been observed in several individuals with a personal and/or family history that is consistent with VHL-related disease (Ambry internal data). In addition, internal structural analysis indicates that this alteration is destabilizing to the protein (Ambry internal data). This amino acid position is not well conserved on species alignment. The in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |