ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2463C>T (p.Gly821=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048723 SCV001212739 uncertain significance Charcot-Marie-Tooth disease type 4 2019-11-27 criteria provided, single submitter clinical testing This sequence change affects codon 821 of the PRX mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRX protein. This variant is present in population databases (rs368481955, ExAC 0.02%). This variant has not been reported in the literature in individuals with PRX-related conditions. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200233 SCV001371138 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing

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