ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.435G>C (p.Gln145His) (rs771727849)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197591 SCV000254653 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 145 of the VHL protein (p.Gln145His). 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 not been reported as a germline variant in the literature in individuals affected with VHL-related disease. ClinVar contains an entry for this variant (Variation ID: 216479). An experimental study has shown that this missense change disrupts important functional interactions and may lead to malignancy (PMID: 15611064). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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