ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) (rs121908844)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000326964 SCV000329558 pathogenic not provided 2016-05-18 criteria provided, single submitter clinical testing The D351G pathogenic variant in the TP63 gene has been reported previously using alternative nomenclature (D312G) in a patient with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (Akahoshi et al., 2003). The D351G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D351G variant is a non-conservative amino acid substitution, which occurs within DNA binding domain at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.
OMIM RCV000006915 SCV000027111 pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 2003-07-30 no assertion criteria provided literature only

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