ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)

dbSNP: rs1057518947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415141 SCV000492994 uncertain significance Hypertelorism; Upslanted palpebral fissure; Clinodactyly of the 5th finger; Opacification of the corneal stroma; Bifid nasal tip 2014-05-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196334 SCV001366932 uncertain significance Char syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
Illumina Laboratory Services, Illumina RCV001196334 SCV002540263 uncertain significance Char syndrome 2021-11-19 criteria provided, single submitter clinical testing The TFAP2B c.830C>G (p.Ser277Trp) missense variant results in the substitution of serine at amino acid position 277 with tryptophan. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant lies within the basic domain of the transcription factor AP-2 beta protein, which is necessary for DNA binding (Williams et al. 1991). Variants within the basic domain have been associated with disease and shown to alter the protein's DNA binding ability to have a dominant negative effect on transcription factor transactivation in vitro (Satoda et al. 2000; Zhao et al. 2001). Based on the available evidence, the c.830C>G (p.Ser277Trp) variant is classified as a variant of uncertain significance for Char syndrome.

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