ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.541-3_541-2del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003329198 SCV004035976 uncertain significance Char syndrome 2023-04-04 criteria provided, single submitter clinical testing The TFAP2B c.541-3_541-2del variant occurs in a splice region and consists of the deletion of an adenine and a cytosine. To our knowledge, this variant has not been reported in the peer-reviewed literature. The c.541-3_541-2del variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Computational tools predict that this variant may impact splicing. Based on the available evidence, the c.541-3_541-2del variant is classified as a variant of uncertain significance for Char syndrome.
GeneDx RCV004794637 SCV005415131 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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