臨床信息：受檢者，男，23歲。臨床診斷為延髓腫瘤，考慮血管母細胞瘤。 檢測項目：VHL綜合征基因檢測 檢測結果：受檢者攜帶VHL基因c.551T>G雜合變異，是VHL綜合征的可能致病變異。 一代測序結果 變異評級： c.551T>G 變異評級：可能致病 PM5_Supporting： ClinVar數據庫記錄同一位置有1個可能致病變異：c.551T>C(p.Leu184Pro)。 PM6：未經父母樣本驗證的新發變異。 PM2_Supporting：根據ESP數據庫、千人數據庫、gnomAD數據庫分析，該變異位點的最高人群頻率為0。 PP3_Moderate：生物信息學軟件REVEL評分為0.918。 Von Hippel-Lindau（VHL）綜合征是一種多系統腫瘤綜合征，由VHL腫瘤抑制基因種系突變引起，以視網膜及中樞神經系統血管母細胞瘤和腹部多發良惡性腫瘤及囊腫（如腎透明細胞癌、嗜鉻細胞瘤、神經內分泌瘤、內淋巴囊腫瘤、腎臟和胰腺多發囊腫等）為主要臨床表現，表型差異較大。呈常染色體顯性遺傳，VHL基因突變的人群攜帶率估計為3/10萬左右，65歲時外顯率接近100%。 VHL基因突變導致的VHL綜合征呈常染色體顯性遺傳，攜帶致病性變異的患者，其子女遺傳該變異的風險為50%，建議生育前請進行遺傳咨詢。
該變異曾在1個VHL綜合征患者中被發現。
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