ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)

dbSNP: rs2114014460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272588 SCV002556396 likely pathogenic Branchiooculofacial syndrome 2020-11-12 criteria provided, single submitter clinical testing The TFAP2A c.681C>G variant is classified as Likely Pathogenic (PVS1, PM2) The TFAP2A c.681C>G variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 227. This variant is absent from population databases (PM2). This variant is in exon 4 of 7 which encodes the DNA binding domain and which is a known mutational hotspot (PMID: 23578821).
PreventionGenetics, part of Exact Sciences RCV003933735 SCV004753058 likely pathogenic TFAP2A-related disorder 2023-12-27 no assertion criteria provided clinical testing The TFAP2A c.681C>G variant is predicted to result in premature protein termination (p.Tyr227*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in TFAP2A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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