Submissions for variant NM_020956.2(PRX):c.*1044C>T (rs557355077)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000654137	SCV000776027	uncertain significance	Charcot-Marie-Tooth disease type 4	2019-11-14	criteria provided, single submitter	clinical testing	This sequence change replaces proline with leucine at codon 280 of the PRX protein (p.Pro280Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. While this variant is present in population databases (rs557355077), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: "Deleterious"; 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000762018	SCV000892261	uncertain significance	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173939	SCV001337058	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing