ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.184G>A (p.Val62Met)

dbSNP: rs747861291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013381 SCV001173960 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-11 criteria provided, single submitter clinical testing The p.V62M variant (also known as c.184G>A), located in coding exon 1 of the VHL gene, results from a G to A substitution at nucleotide position 184. The valine at codon 62 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001202371 SCV001373481 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 62 of the VHL protein (p.Val62Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a central nervous system hemangioblastoma (PMID: 20233476). ClinVar contains an entry for this variant (Variation ID: 820178). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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