ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2894C>T (rs756689732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800697 SCV000940427 pathogenic Charcot-Marie-Tooth disease type 4 2018-09-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Arg897*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 565 amino acids of the PRX protein. This variant is present in population databases (rs756689732, ExAC 0.03%). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 25614874). 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.
Genesis Genome Database RCV000857052 SCV000999624 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research

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