ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.408del (p.Phe136fs) (rs397516442)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036544 SCV000060199 pathogenic Von Hippel-Lindau syndrome 2014-02-13 criteria provided, single submitter clinical testing The p.Phe136fs variant in VHL has been reported as a somatic change occurring in renal cell carcinoma (Brauch 1999, Brauch 2004, Houweligen 2005, Banks 2006, Fo rmenti 2011). It has also been identified by our laboratory as a heterozygous g ermline variant in 1 individual with VHL and segregated with disease in 1 affect ed relative, although 1 obligate carrier was apparently unaffected. This framesh ift variant is predicted to alter the protein?s amino acid sequence beginning at position 136 and lead to a premature termination codon 23 amino acids downstrea m. This alteration is then predicted to lead to a truncated or absent protein. H eterozygous loss of function of the VHL gene is an established disease mechanism in VHL. In summary, this variant meets our criteria to be classified as pathoge nic for autosomal dominant VHL.
PreventionGenetics,PreventionGenetics RCV000679039 SCV000805347 pathogenic not provided 2016-11-22 criteria provided, single submitter clinical testing

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