ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.642A>G (p.Ter214Trp) (rs1559430011)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767298 SCV000897857 likely pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000767298 SCV000920340 likely pathogenic Von Hippel-Lindau syndrome 2017-12-08 criteria provided, single submitter clinical testing Variant summary: The VHL c.642A>G (p.X214TrpextX14) variant involves the alteration of a conserved nucleotide located in the termination codon causing an elongation of the VHL protein by 14 amino acids. This variant is absent in 243168 control chromosomes (gnomAD). A publication, Sorrell_2011, cites the variant in a patient presenting with pheochromocytoma and pancreatic cysts. In addition, multiple variants affecting the termination codon causing an elongation of the VHL protein, c.641G>T (p.X214LeuextX15) and c.642A>T (p.X214CysextX15) have been reported in affected individuals, therefore, suggesting the location being a mutational hotspot. The variant of interest, however, to our knowledge, has not been cited by other clinical diagnostic laboratories and/or reputable databases. Therefore, the variant of interest has been classified as a "Likely Pathogenic."

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