ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.4050del (p.Ser1351fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169989 SCV001251805 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV001229227 SCV001401666 uncertain significance Charcot-Marie-Tooth disease type 4 2019-09-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Ser1351Alafs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acids of the PRX protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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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