ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.98G>A (p.Arg33His)

gnomAD frequency: 0.00512  dbSNP: rs77358162
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
GeneDx RCV000125578 SCV000169030 benign not specified 2014-01-18 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000422140 SCV000511640 likely benign not provided 2016-12-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001080813 SCV000652143 benign Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000422140 SCV002586205 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TPK1: BP4, BS2
Fulgent Genetics, Fulgent Genetics RCV001080813 SCV002807876 likely benign Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514673 SCV003546059 likely benign Inborn genetic diseases 2022-09-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003925247 SCV004743715 benign TPK1-related disorder 2023-12-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000422140 SCV000802874 benign not provided 2017-07-13 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.