ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2707A>G (p.Ile903Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062815 SCV001227638 uncertain significance Charcot-Marie-Tooth disease type 4 2019-02-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 903 of the PRX protein (p.Ile903Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRX-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Genesis Genome Database RCV000857051 SCV000999623 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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