ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.607_623del (p.Gln203fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003782930 SCV004603213 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-03 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the VHL gene (p.Gln203Serfs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the VHL protein and extend the protein by 35 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VHL-related conditions. 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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