ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.416C>T (p.Ser139Phe) (rs587780732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196415 SCV000254652 uncertain significance Von Hippel-Lindau syndrome 2015-04-13 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 139 of the VHL protein (p.Ser139Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant has been reported in the literature in an individual affected with Von Hippel-Lindau syndrome (PMID: 25078357), and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change reported in an affected individual and not seen in the general population. However, the impact of this change on protein function is uncertain and family studies have not been reported. It has been classified as a Variant of Uncertain Significance.

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