ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.556G>T (p.Glu186Ter) (rs367545984)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432980 SCV000521050 likely pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing The E186X variant in the VHL gene has been previously reported in association with von Hippel-Lindau disease (Chen et al., 1995; Stolle et al., 1998). This variant is predicted to cause loss of normal protein function through protein truncation. Based on currently available evidence, E186X is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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