ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2753C>G (rs141686828)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461499 SCV000551423 uncertain significance Charcot-Marie-Tooth disease type 4 2020-01-06 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.
Athena Diagnostics Inc RCV000712866 SCV000843407 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136100 SCV001295918 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 4F 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173750 SCV001336864 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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