ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)

gnomAD frequency: 0.00001  dbSNP: rs104894708
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Translational Omics - GOSgene, University College London RCV000005061 SCV000212112 pathogenic Dejerine-Sottas disease 2012-10-22 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000701391 SCV000830191 pathogenic Charcot-Marie-Tooth disease type 4 2023-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1070*) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 392 amino acid(s) of the PRX protein. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4794). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 15197604, 15469949, 16770524, 22847150, 26059842). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs104894708, gnomAD 0.006%).
CMT Laboratory, Bogazici University RCV000032006 SCV001548314 pathogenic Charcot-Marie-Tooth disease type 4F 2020-12-01 criteria provided, single submitter clinical testing
3billion RCV000005061 SCV002058313 likely pathogenic Dejerine-Sottas disease 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10% (PVS1_S). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000004794, PMID:15197604). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000008, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000032006 SCV000025237 pathogenic Charcot-Marie-Tooth disease type 4F 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032006 SCV000054715 not provided Charcot-Marie-Tooth disease type 4F no assertion provided literature only
Genesis Genome Database RCV000701391 SCV000999622 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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