ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)

dbSNP: rs151344528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660305 SCV000782343 pathogenic Branchiooculofacial syndrome 2016-11-01 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV000660305 SCV001572948 pathogenic Branchiooculofacial syndrome 2019-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026051 SCV004964306 pathogenic Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.760C>T (p.R254W) alteration is located in exon 4 (coding exon 4) of the TFAP2A gene. This alteration results from a C to T substitution at nucleotide position 760, causing the arginine (R) at amino acid position 254 to be replaced by a tryptophan (W). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in multiple individuals who met clinical criteria for Branchiooculofacial syndrome, including two de novo occurrences (Milunsky, 2011). Another alteration at the same codon, TFAP2A c.761G>A (p.R254Q), has been detected de novo in an individual with features consistent with Branchiooculofacial syndrome (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. Functional and structural analyses of p.R254W have demonstrated both reduced luciferase activity and DNA binding ability (Li, 2013; Liu, 2023). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic.
Autoinflammatory diseases unit, CHU de Montpellier RCV000660305 SCV001438110 likely pathogenic Branchiooculofacial syndrome 2019-07-12 no assertion criteria provided clinical testing

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