ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1063G>A (p.Asp355Asn) (rs1553857889)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655483 SCV000777413 pathogenic TP63-Related Spectrum Disorders 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 355 of the TP63 protein (p.Asp355Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual with clinical features of ectrodactyly–ectodermal dysplasia–cleft palate (EEC) syndrome (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic.

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