ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1199A>G (rs143710873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196884 SCV000255228 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 332 of the PRX protein (p.Thr332Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs143710873, ExAC 0.003%). This variant has not been reported in the literature in individuals with PRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 216837). 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 tolerated, 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285391 SCV001471810 uncertain significance none provided 2020-03-06 criteria provided, single submitter clinical testing The PRX c.994A>G; p.Thr332Ala variant (rs143710873), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 216837). This variant is found in the non-Finnish European population with an overall allele frequency of 0.007% (9/124700 alleles) in the Genome Aggregation Database. The threonine at codon 332 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Thr332Ala variant is uncertain at this time.

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