ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.245G>C (p.Arg82Pro) (rs794726890)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724457 SCV000224254 pathogenic not provided 2014-12-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000173161 SCV000697487 pathogenic Von Hippel-Lindau syndrome 2019-02-14 criteria provided, single submitter clinical testing Variant summary: The variant, VHL c.245G>C (p.Arg82Pro) results in a non-conservative amino acid change located in the von Hippel-Lindau disease tumor suppressor, beta/alpha domain and von Hippel-Lindau disease tumor suppressor, beta domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 227066 control chromosomes (gnomAD) and has been reported in the literature in multiple individuals affected with Von Hippel-Lindau Syndrome (Dollfus_2002, Gallou_2004, Chacon-Camacho_2010, Peng_2017). These data indicate that the variant is very likely to be associated with disease. Publications that report experimental evidence evaluating an impact on protein function (Li_2002, German_2016), do not allow convincing conclusions about the variant effect. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000173161 SCV000897788 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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