ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.407T>C (p.Phe136Ser) (rs5030833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587621 SCV000697513 pathogenic Von Hippel-Lindau syndrome 2019-09-12 criteria provided, single submitter clinical testing Variant summary: VHL c.407T>C (p.Phe136Ser) results in a non-conservative amino acid change located in the von Hippel-Lindau disease tumour suppressor, beta domain (IPR024053) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251496 control chromosomes. c.407T>C has been reported in the literature in multiple individuals affected with Von Hippel-Lindau Syndrome (eg- Crossey_1994, Zbar_1996, Gallou_2004). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014) and cited the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
PreventionGenetics,PreventionGenetics RCV000679038 SCV000805346 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000587621 SCV000897820 likely pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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