ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)

gnomAD frequency: 0.00048  dbSNP: rs199641113
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333360 SCV000342106 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000333360 SCV001040344 likely benign not provided 2022-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000333360 SCV001785441 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004678664 SCV005176242 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.908C>T (p.P303L) alteration is located in exon 5 (coding exon 5) of the TJP2 gene. This alteration results from a C to T substitution at nucleotide position 908, causing the proline (P) at amino acid position 303 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003957494 SCV004771313 likely benign TJP2-related disorder 2023-04-17 no assertion criteria provided 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).

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.