ClinVar Miner

Submissions for variant NM_001354723.2(VHL):c.*46G>T (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 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-10-08 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 missense change has been observed in an individual affected with solitary juxtapapillary capillary retinal angioma (PMID: 17392848), an individual with erythrocytosis (PMID: 29891534), and in several individuals affected with pheochromocytoma and/or paraganglioma (PMID: 24102379, 22517557, 19215943, 12807974, Invitae). This variant is also known as 705G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 456566). 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). For these reasons, this variant has been classified as Pathogenic.

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