ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.277G>A (p.Gly93Ser) (rs5030808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208813 SCV000264693 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing
Invitae RCV000698471 SCV000827137 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-03-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 93 of the VHL protein (p.Gly93Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with von Hippel-Lindau (VHL) syndrome and reported to segregate in their families (PMID: 8707293, 17922902, 17661816). In addition, this variant has been reported to be de novo in affected individuals (PMID: 12000816, 9329368). This variant is also known as c.490G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 2237). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002325 SCV000022483 pathogenic Pheochromocytoma 2002-05-09 no assertion criteria provided literature only

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