ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) (rs751232153)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780787 SCV000918340 likely pathogenic Von Hippel-Lindau syndrome 2017-09-01 criteria provided, single submitter clinical testing Variant summary: The VHL c.336C>G (p.Tyr112X) variant results in a premature termination codon, predicted to cause a truncated or absent VHL protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.337C>T (p.Arg113X), c.384delT (p.Leu129fsX30), and c.394C>T (p.Gln132X)). A publication, Chen_1996 cites the variant c.336C>A, which causes the same nonsense mutation in two patients diagnosed with VHL. This variant is absent in 91896 control chromosomes from ExAC. This nucleotide change has not, to our knowledge, been reported in reputable databases and/or clinical diagnostic laboratories. Taken together, this variant is classified as likely pathogenic.

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