ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3413C>T (rs104894708)

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Total submissions: 5
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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
Invitae RCV000701391 SCV000830191 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Arg1070*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 392 amino acids of the PRX protein. This variant is present in population databases (rs104894708, ExAC 0.006%). This variant 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 the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4794). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032006 SCV000025237 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032006 SCV000054715 pathologic Charcot-Marie-Tooth disease, demyelinating, type 4F 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
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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