ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.290G>A (p.Arg97His)

gnomAD frequency: 0.00001  dbSNP: rs752080701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732570 SCV000860540 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV001855687 SCV002114924 uncertain significance TP63-Related Spectrum Disorders 2023-08-19 criteria provided, single submitter clinical testing 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. 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: 596662). This variant has not been reported in the literature in individuals affected with TP63-related conditions. This variant is present in population databases (rs752080701, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 97 of the TP63 protein (p.Arg97His).
Fulgent Genetics, Fulgent Genetics RCV002477715 SCV002789807 uncertain significance ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin ectodermal dysplasia syndrome; Split hand-foot malformation 4; Orofacial cleft 8 2022-04-07 criteria provided, single submitter 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.