ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3578G>A (rs148939995)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658835 SCV000292669 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25025039, 32376792)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000235608 SCV000334698 likely benign not specified 2015-09-24 criteria provided, single submitter clinical testing
Invitae RCV001085498 SCV000561611 likely benign Charcot-Marie-Tooth disease type 4 2020-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000235608 SCV000604942 likely benign not specified 2019-05-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658835 SCV000780631 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001128999 SCV001288495 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 4F 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172782 SCV001335850 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino RCV001358805 SCV001554653 uncertain significance Toe walking 2021-02-03 criteria provided, single submitter clinical testing We conducted a clinical examination of patients about toe walking. The PRX:c.3373G>A was detected in 1 patient. The amino acid Gly-1125 is not located in a functionally important domain of the periaxin, but is highly conserved. In terms of their physico-chemical properties, the amino acids glycine and serine are also very similar. According to the prognosis of the In-Silico prediction program Polyphen2, clinical relevance is possible. In the ClinVar database, the variant was evaluated as "probably benign" in patients with Charcot-Marie-Tooth syndrome in 2 separate entries and in one case as VUS. With a high frequency of 0.21% (GnomAD) in the general population, a pathogenic relevance is not likely. In summary, the c.3373G>A variant meets our criteria to be classified as VUS.
Mayo Clinic Laboratories, Mayo Clinic RCV000658835 SCV001715528 uncertain significance not provided 2019-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000235608 SCV001880774 benign not specified 2021-05-05 criteria provided, single submitter clinical testing

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