ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3491_*3561del (rs1555800610)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517932 SCV000614808 pathogenic not provided 2017-01-13 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172753 SCV001335819 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001217420 SCV001389258 likely pathogenic Charcot-Marie-Tooth disease type 4 2019-05-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PRX gene (p.Ile1096Trpfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 366 amino acids of the PRX protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with Charcot-Marie-Tooth disease (PMID: 18410371). ClinVar contains an entry for this variant (Variation ID: 448139). This variant disrupts the C-terminus of the PRX protein. Other variant(s) that disrupt this region (p.Glu1235*, p.Glu1322Glyfs*3, p.Gly1258Thrfs*124) have been observed in individuals with PRX-related conditions (PMID: 29858556, 24078732, 21840889). This suggests that this may be a clinically significant region of the protein. 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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