ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.693C>T (p.Ser231=)

gnomAD frequency: 0.00283  dbSNP: rs61752254
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000552061 SCV000437996 uncertain significance Parkinsonian-pyramidal syndrome 2018-01-12 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.
Invitae RCV000552061 SCV000640392 benign Parkinsonian-pyramidal syndrome 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591434 SCV000707367 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000552061 SCV000744149 likely benign Parkinsonian-pyramidal syndrome 2017-06-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310799 SCV001500740 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing FBXO7: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003897774 SCV004708839 likely benign FBXO7-related disorder 2020-02-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000552061 SCV000734125 likely benign Parkinsonian-pyramidal syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001310799 SCV001806832 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.