ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.492G>T (p.Gln164His) (rs1352275281)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538803 SCV000626875 likely pathogenic Von Hippel-Lindau syndrome 2017-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 164 of the VHL protein (p.Gln164His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with solitary juxtapapillary capillary retinal angioma (PMID: 17392848), and in individuals affected with pheochromocytoma and/or paraganglioma (PMID: 24102379, 22517557, 19215943). This variant is also known as 705G>T in the literature. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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