ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.606dup (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
Invitae RCV001203962 SCV001375147 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-08-02 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the VHL gene (p.Gln203Thrfs*53). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acids of the VHL protein and extend the protein by an additional 41 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of von Hippel-Lindau syndrome (PMID: 22799452, 17024664, Invitae). This variant is also known as 819_820dupA in the literature. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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