ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.341-1_342dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071279 SCV001236574 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-02-24 criteria provided, single submitter clinical testing This variant, c.341-1_342dup, results in the insertion of 1 amino acid(s) to the VHL protein (p.Gly114dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of von Hippel-Lindau (VHL) syndrome (PMID: 17024664, Invitae). This variant is also known as 555_556dupGGT and c.342_343dupGGT in the literature. Experimental studies and prediction algorithms are not available 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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