ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.321C>T (p.Arg107=) (rs864622334)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204667 SCV000260208 uncertain significance Von Hippel-Lindau syndrome 2015-08-26 criteria provided, single submitter clinical testing This sequence change affects codon 107 of the VHL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the VHL protein. This variant is not present in population databases and has not been reported in the literature. Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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