ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.799G>A (p.Val267Ile)

dbSNP: rs768752805
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001362555 SCV001558580 uncertain significance TP63-Related Spectrum Disorders 2022-10-13 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TP63 protein function. ClinVar contains an entry for this variant (Variation ID: 1054108). This missense change has been observed in at least one individual who was not affected with TP63-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with TP63-related conditions. This variant is present in population databases (rs768752805, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 267 of the TP63 protein (p.Val267Ile). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333764 SCV004041708 uncertain significance ADULT syndrome 2023-10-09 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.