ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2787del (p.Lys930fs) (rs754521978)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000517732 SCV000339086 pathogenic not provided 2016-02-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517732 SCV000614802 pathogenic not provided 2014-10-27 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity. Found in multiple individuals with expected phenotype for this gene.
Invitae RCV001048951 SCV001212981 pathogenic Charcot-Marie-Tooth disease type 4 2019-02-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Lys930Serfs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 505 amino acids of the PRX protein. This variant is present in population databases (rs754521978, ExAC 0.1%). This variant has been observed in several individuals affected with Charcot-Marie-Tooth disease (PMID: 11133365). ClinVar contains an entry for this variant (Variation ID: 217239). This variant disrupts the C-terminus of the PRX protein. Other variant(s) that disrupt this region (p.Arg1070*) have been determined to be pathogenic (PMID: 15197604, 15469949, 16770524, 22847150, 26059842). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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