ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.797G>A (p.Arg266Gln) (rs121908849)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000006925 SCV000537817 pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 no assertion criteria provided clinical testing
GeneDx RCV000413620 SCV000490859 pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing The R266Q pathogenic variant in the TP63 gene, also referred to as R227Q due to the use of alternative nomenclature, is a common pathogenic variant that has been reported several times in association with Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome (van Bokhoven et al., 2001; Maclean et al., 2007; Sripathomsawat et al., 2011; Su et al., 2013). In vitro functional studies demonstrated that the R266Q variant enhances the transactivation of some TP63 targets and up-regulated the expression of mRNA and protein for TP63 target genes (Khokhar et al., 2008). The R266Q 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 R266Q variant is a semi-conservative amino acid substitution, and occurs at a position that is conserved across species. We interpret R266Q as a pathogenic variant.
Gharavi Laboratory,Columbia University RCV000413620 SCV000809433 pathogenic not provided 2018-09-16 no assertion criteria provided research
OMIM RCV000006925 SCV000027121 pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 2011-01-01 no assertion criteria provided literature only
OMIM RCV000006926 SCV000027122 pathogenic ADULT syndrome 2011-01-01 no assertion criteria provided literature only

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