Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812797 | SCV000953122 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2019-04-29 | criteria provided, single submitter | clinical testing | This variant has been observed to be de novo in an individual with clinical features of von Hippel-Lindau syndrome (Invitae). This variant, c.291_302delCTACCCAACGCT, results in the deletion of 4 amino acids of the VHL protein (p.Tyr98_Leu101del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). Variants that disrupt the p.Tyr98 amino acid residue in VHL have been observed in affected individuals (PMID: 7759077, 7728151, 10408776, 21204227, 19763184, 19336503, 11483638). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |