ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231331 SCV001403849 pathogenic Charcot-Marie-Tooth disease type 4 2019-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr77*) in the PRX gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This nonsense change has been observed in an individual referred for neuropathy testing (PMID: 25614874). 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. Loss-of-function variants in PRX are known to be pathogenic (PMID: 11133365). For these reasons, this variant has been classified as Pathogenic.

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