ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1693T>G (p.Phe565Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805566 SCV000945525 pathogenic TP63-Related Spectrum Disorders 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 565 of the TP63 protein (p.Phe565Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Ablepharon ectodermal dysplasia clefting syndrome (Invitae). 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"). For these reasons, this variant has been classified as Pathogenic.

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