ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3927G>A (rs139120811)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712868 SCV000843409 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196825 SCV001367458 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 4F 2018-11-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1.
Invitae RCV000857049 SCV001404384 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1241 of the PRX protein (p.Gly1241Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs139120811, ExAC 0.006%). This variant has not been reported in the literature in individuals with PRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 586381). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genesis Genome Database RCV000857048 SCV000999619 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857049 SCV000999620 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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