ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.3014_3015insT (p.Lys1006fs) (rs1301129751)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654042 SCV000775932 pathogenic Charcot-Marie-Tooth disease type 4 2017-12-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Lys1006Glnfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 456 amino acids of the PRX protein. 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 disease. 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. A different truncation (p.Arg1070*) that lies downstream of this variant has been determined to be pathogenic (PMID: 15197604, 16770524, 22847150, 26059842). This suggests that deletion of this region of the PRX protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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