ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.531_542delinsTC (p.Arg177fs) (rs1553620331)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660352 SCV000782420 pathogenic Von Hippel-Lindau syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000657387 SCV000779120 likely pathogenic not provided 2017-09-14 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted VHL c.531_542del12insTC at the cDNA level and p.Arg177SerfsX22 (R177SfsX22) at the protein level. The surrounding sequence is GGAG[del12][insTC]CAGG. The variant causes a frameshift which changes an Arginine to a Serine at codon 177, and creates a premature stop codon at position 22 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. The disrupted region at the end of the gene is located within the alpha domain, involved in Elongin C binding, and the beta domain, which interacts with the ODD domain of HIF-alpha subunits (Yuen 2009). Based on the currently available information, we consider VHL c.531_542del12insTC to be a likely pathogenic variant.

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