ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)

dbSNP: rs151344531
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Total submissions: 6
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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 RCV000660307 SCV000782346 pathogenic Branchiooculofacial syndrome 2016-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Goettingen RCV000660307 SCV001439284 likely pathogenic Branchiooculofacial syndrome 2020-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265963 SCV001444135 pathogenic Inborn genetic diseases 2018-09-10 criteria provided, single submitter clinical testing
Invitae RCV001868178 SCV002240109 pathogenic not provided 2021-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 547803). This missense change has been observed in individual(s) with clinical features of branchiooculofacial syndrome (PMID: 21204207, 22276601, 22963965). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, a(n) neutral and non-polar amino acid, with valine, a(n) neutral and non-polar amino acid, at codon 256 of the TFAP2A protein (p.Ala256Val).
GeneDx RCV001868178 SCV002513095 pathogenic not provided 2023-10-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22963965, 22276601, 21728810, 21204207, 22537416)
Autoinflammatory diseases unit, CHU de Montpellier RCV000660307 SCV001438109 pathogenic Branchiooculofacial syndrome 2016-03-14 no assertion criteria provided clinical testing

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