ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.796T>C (p.Ser266Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785092 SCV005397571 uncertain significance Char syndrome 2024-06-26 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (T>C) at position 796 of the coding sequence of the TFAP2B gene that results in a serine to proline amino acid change at residue 266 of the transcription factor AP-2 beta protein. This variant is absent from ClinVar and has not been observed in individuals affected by a TFAP2B-related disorder in the published literature, to our knowledge. This variant is absent from the gnomAD v4.1.0 population database (0/~1612000 alleles). Multiple bioinformatic tools predict that this amino acid change would be damaging, and the Ser266 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functional consequence of this variant have not been published, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this a variant of uncertain significance. ACMG Criteria: PM2, PP3

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