ClinVar Miner

Submissions for variant NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)

gnomAD frequency: 0.09564  dbSNP: rs77247739
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082836 SCV000114888 benign not specified 2013-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000082836 SCV000169183 benign not specified 2013-12-31 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.
Genetic Services Laboratory, University of Chicago RCV000082836 SCV000195239 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000082836 SCV000317238 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298044 SCV000406470 benign Pontoneocerebellar hypoplasia 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000713895 SCV000844535 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000713895 SCV001722340 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000082836 SCV001918096 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000082836 SCV001967587 benign not specified 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.