ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.25G>A (p.Asp9Asn) (rs587780730)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000123104 SCV000488949 uncertain significance Von Hippel-Lindau syndrome 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV000524493 SCV000166405 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 9 of the VHL protein (p.Asp9Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs587780730, ExAC 0.07%). This variant has not been reported in the literature in individuals with VHL-related disease. ClinVar contains an entry for this variant (Variation ID: 135953). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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