ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10356G>A (p.Leu3452=)

gnomAD frequency: 0.00002  dbSNP: rs764965013
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003418899 SCV004114126 uncertain significance TNXB-related disorder 2023-04-18 criteria provided, single submitter clinical testing The TNXB c.10350G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to create a cryptic splice acceptor site based on available splicing prediction programs (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0071% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-32014202-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV005281389 SCV005956026 likely benign Cardiovascular phenotype 2025-01-19 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.

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.