ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.319CGC[1] (p.Arg108del)

dbSNP: rs869191373
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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 RCV000817864 SCV000958447 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2018-10-13 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 is currently unknown. This variant has been observed in an individual with clinical features of von Hippel-Lindau syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.322_324delCGC, results in the deletion of 1 amino acid of the VHL protein (p.Arg108del), but otherwise preserves the integrity of the reading frame.

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