Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655482 | SCV000777412 | pathogenic | TP63-Related Spectrum Disorders | 2020-12-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (PMID: 22329826, 20491771, 16190990, Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as G506D and p.Gly561Asp. ClinVar contains an entry for this variant (Variation ID: 544362). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 600 of the TP63 protein (p.Gly600Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. |