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 2018-06-11 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 delete 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 as homozygous or on the opposite chromosome (in trans) from other pathogenic variants in several individuals affected with Charcot-Marie-Tooth disease and has been found to segregate with the disease in one family (PMID: 15197604, 15469949, 16770524, 22847150, 26059842). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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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