ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.2548C>G (p.Pro850Ala) (rs141686828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712866 SCV000843407 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
Invitae RCV000461499 SCV000551423 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-25 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 850 of the PRX protein (p.Pro850Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs141686828, ExAC 0.07%). This variant has been reported in two individuals affected with Charcot-Marie-Tooth disease type 1 (PMID: 26392352). ClinVar contains an entry for this variant (Variation ID: 410603). 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.

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