ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1807G>C (p.Asp603His)

gnomAD frequency: 0.00003  dbSNP: rs767906723
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001982230 SCV002214305 likely benign TP63-Related Spectrum Disorders 2024-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002692 SCV002778477 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 syndrome; Split hand-foot malformation 4; Orofacial cleft 8; Premature ovarian failure 21 2024-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746523 SCV005350346 uncertain significance TP63-related disorder 2024-05-21 no assertion criteria provided clinical testing The TP63 c.1807G>C variant is predicted to result in the amino acid substitution p.Asp603His. This variant has been reported in an individual with bilateral complete cleft lip and palate, inherited from her clinically unaffected father (Leoyklang et al. 2006. PubMed ID: 16740912). This variant is reported in 0.060% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.