ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.165_177dup (p.Gln60fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804288 SCV000944191 pathogenic Charcot-Marie-Tooth disease type 4 2018-11-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Gln60Glufs*95). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1402 amino acids of the PRX protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRX-related disease. This variant disrupts the C-terminus of the PRX protein. Other variant(s) that disrupt this region (p.Arg1070*) have been determined to be pathogenic (PMID: 15197604, 16770524, 22847150). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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