ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del)

dbSNP: rs1696132295
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056150 SCV001220573 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2019-01-17 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed in an individual affected with clinical features of von Hippel-Lindau syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.238_246del, results in the deletion of 3 amino acid(s) of the VHL protein (p.Ser80_Arg82del), but otherwise preserves the integrity of the reading frame.

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