ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.388G>T (p.Val130Phe) (rs104893830)

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Total submissions: 2
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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, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000588434 SCV000897815 uncertain significance Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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