ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.728G>A (p.Arg243Gln) (rs121908836)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705452 SCV000834450 pathogenic TP63-Related Spectrum Disorders 2018-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 243 of the TP63 protein (p.Arg243Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome (PMID: 28293528), and was observed to segregate in a family with autosomal dominant split-hand-split-foot malformation or SHFM (PMID: 29620206). This variant is also known as p.Arg204Gln in the literature (PMID: 10535733). ClinVar contains an entry for this variant (Variation ID: 6528). The p.Arg243 amino acid residue in TP63 has been determined to be clinically significant (PMID: 21078104, 20543567, 10535733, 18626511, 21652629, 23463580, 23355676, 18792980, 12525544). This suggests that variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006901 SCV000027097 pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 1999-10-15 no assertion criteria provided literature only

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