ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.395A>C (p.Gln132Pro) (rs1347416980)

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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 RCV000589183 SCV000697511 pathogenic Von Hippel-Lindau syndrome 2016-02-09 criteria provided, single submitter clinical testing Variant summary: The c.395A>C in VHL gene is a missense variant that involves a conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant is absent from the broad control population dataset of ExAC, suggesting this variant is not a common polymorphism. The variant has been reported in multiple affected individuals presented with von Hippel-Lindau disease, including several familial cases. The variant of interest has been reported as Pathogenic via peer-reviewed publications. Taking together, the variant was classified as Pathogenic.

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