ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) (rs104894707)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760319 SCV000890175 pathogenic not provided 2018-11-21 criteria provided, single submitter clinical testing The C715X variant in the PRX gene has been reported previously in the homozygous state in two consanguineous siblings with demyelinating Charcot-Marie-Tooth neuropathy (Takashima et al., 2002; Baets et al., 2011). This variant is predicted to cause loss of normal protein function through protein truncation. The C715X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret C715X as a pathogenic variant.
GeneReviews RCV000032004 SCV000054713 pathologic Charcot-Marie-Tooth disease, demyelinating, type 4F 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000474032 SCV000551379 pathogenic Charcot-Marie-Tooth disease type 4 2018-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 715 (p.Cys715*) of the PRX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRX are known to be pathogenic. This particular variant has been reported in the literature in 2 siblings affected with Charcot-Marie-Tooth neuropathy (PMID: 12112076). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032004 SCV000025235 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2002-06-01 no assertion criteria provided literature only

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