ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.520A>T (p.Asn174Tyr) (rs1060503566)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461022 SCV000553412 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2016-12-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 174 of the VHL protein (p.Asn174Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a VHL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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