ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.952C>T (p.Arg318Cys) (rs1205536026)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805973 SCV000945950 pathogenic TP63-Related Spectrum Disorders 2019-03-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 318 of the TP63 protein (p.Arg318Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of ectrodactyly, ectodermal dysplasia and facial clefts syndrome (EEC syndrome) (PMID: 11462173, Invitae). This variant has been reported to affect TP63 protein function (PMID: 21652629, 18626511). This variant disrupts the p.Arg318 amino acid residue in TP63. Other variant(s) that disrupt this residue have been observed in individuals with TP63-related conditions (PMID: 23431748, 23355676, 12525544), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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