ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172757 SCV001335824 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001241428 SCV001414442 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Arg1335*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 127 amino acids of the PRX protein. This variant is present in population databases (rs559968504, ExAC 0.005%). This variant has not been reported in the literature in individuals with PRX-related conditions. 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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