Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000588434 | SCV000697508 | pathogenic | Von Hippel-Lindau syndrome | 2016-02-09 | criteria provided, single submitter | clinical testing | Variant summary: VHL c.388G>T variant affects a conserved nucleotide, resulting in amino acid change from Val to Phe. 3/3 in-silico tools predict damaging outcome for this variant (SNPs&GO not captured due to low reliability index; no prediction for SIFT). This variant has been reported in at least 7 VHL patients and was not found in 121412 control chromosomes. Functional studies showed this variant affect the stabilization of HIF1a and HIF2a by VHL (Rechsteiner_2011). In addition, variants affecting same amino acid position (p.Val130Ile and p.Val130Leu), are associated with VHL. Taken together, this variant was classified as pathogenic. |
Genomic Diagnostic Laboratory, |
RCV000588434 | SCV000897815 | uncertain significance | Von Hippel-Lindau syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing |