Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000732570 | SCV000860540 | uncertain significance | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
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, |
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 syndrome; Split hand-foot malformation 4; Orofacial cleft 8 | 2022-04-07 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004745572 | SCV005358920 | uncertain significance | TP63-related disorder | 2024-08-07 | no assertion criteria provided | clinical testing | The TP63 c.290G>A variant is predicted to result in the amino acid substitution p.Arg97His. To our knowledge, this variant has not been reported in the literature. Alternate nucleotide changes affecting the same amino acid have been reported in an individual with a split-hand malformation (p.Arg97Cys) (Zenteno et al. 2005. PubMed ID: 15736220) and in two related individuals with premature ovarian failure (p.Arg97Pro) (Table 2, Tucker et al 2022. PubMed ID: 35801529). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |