ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1427C>T (rs150244426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512796 SCV000608904 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV000654145 SCV000776035 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 408 of the PRX protein (p.Pro408Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs150244426, ExAC 0.1%). This variant has not been reported in the literature in individuals with PRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173746 SCV001336860 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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