ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.184+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046029 SCV001209911 likely pathogenic Charcot-Marie-Tooth disease type 4 2020-01-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the PRX gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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 not been reported in the literature in individuals with PRX-related conditions. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PRX are known to be pathogenic (PMID: 11133365). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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