ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2498G>T (rs541455813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688584 SCV000816203 uncertain significance Charcot-Marie-Tooth disease type 4 2020-10-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 765 of the PRX protein (p.Asp765Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs541455813, ExAC 0.006%). 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 (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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173766 SCV001336880 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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