ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*791C>T (rs104894706)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222897 SCV001395020 pathogenic Charcot-Marie-Tooth disease type 4 2019-05-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Arg196*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,266 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 been observed to be homozygous or in combination with another PRX variant in individuals and a large family affected with Charcot-Marie-Tooth disease (PMID: 24011642, 11157804). ClinVar contains an entry for this variant (Variation ID: 4791). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005057 SCV000025233 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2001-02-15 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789537 SCV000928893 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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