ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.250G>T (p.Val84Leu) (rs5030827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000002324 SCV000060196 pathogenic Von Hippel-Lindau syndrome 2012-03-02 criteria provided, single submitter clinical testing The Val84Leu variant has previously been reported in the literature in several i ndividuals with clinical features consistent with VHL syndrome. Six individuals with bilateral pheochromocytomas have been reported, four of whom had a family h istory (Abbott 2006, Crossey 1995, Klein 2001, Leonardi 2011). This variant segr egated with disease in two individuals from two families (Crossey 1995, Abbott 2 006) and is currently considered to be causative for VHL type 2C (Crossey 1995). In addition, this variant (caused by a different nucleotide change, 250G>C) was reported as a de novo variant in an individual with sporadic disease and was ab sent from 400 control chromosomes (Leonardi 2011). This variant is listed in dbS NP (rs5030827) as a clinically associated variant. In summary, this variant is h ighly likely to be pathogenic.
OMIM RCV000002324 SCV000022482 pathogenic Von Hippel-Lindau syndrome 2006-04-01 no assertion criteria provided literature only
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000002324 SCV000264682 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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