ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.2853dup (p.Gly952fs) (rs1568704829)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731317 SCV000859118 pathogenic not provided 2018-01-10 criteria provided, single submitter clinical testing
Invitae RCV000807484 SCV000947537 pathogenic Charcot-Marie-Tooth disease type 4 2018-08-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Gly952Trpfs*23). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 510 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. A different truncation (p.Arg1070*) that lies downstream of this variant has been determined to be pathogenic (PMID: 15197604, 15469949, 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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