ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3701C>T (rs147826200)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086843 SCV000255226 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202796 SCV000258270 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000202796 SCV000515632 likely benign not specified 2016-07-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000202796 SCV000614810 benign not specified 2020-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282939 SCV000886017 uncertain significance none provided 2020-05-05 criteria provided, single submitter clinical testing The PRX c.3496C>T; p.Pro1166Ser variant (rs147826200) has been previously observed in a cohort of patients with chemotherapy-induced peripheral neuropathy (Beutler 2014). However, genetic variation in PRX has not been clearly demonstrated to be a risk factor for this particular type of acquired neuropathy. This variant is described in the ClinVar database (Variation ID: 216835) and is found in the general population with an overall allele frequency of 0.09% (265/280,240 alleles) in the Genome Aggregation Database. The proline at codon 1166 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Based on the available information, the clinical significance of this variant is uncertain. REFERENCE Beutler AS et al. Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Ann Neurol. 2014 Nov;76(5):727-37.
Illumina Clinical Services Laboratory,Illumina RCV001135981 SCV001295793 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 RCV001172771 SCV001335839 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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