ClinVar Miner

Submissions for variant NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln)

dbSNP: rs151344525
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624658 SCV000742473 pathogenic Inborn genetic diseases 2017-04-26 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000019536 SCV000782339 pathogenic Branchiooculofacial syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV002472933 SCV002770392 pathogenic not provided 2022-12-22 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Li et al., 2013); 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: 25590586, 21204207, 19764023, 7747785, 25325184, 31829210, 23578821, 20358615)
Invitae RCV002472933 SCV003439398 likely pathogenic not provided 2022-10-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 18466). This missense change has been observed in individual(s) with branchio-oculo-facial syndrome (PMID: 25325184, 31829210; Invitae). 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 arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 237 of the TFAP2A protein (p.Arg237Gln).
OMIM RCV000019536 SCV000039833 pathogenic Branchiooculofacial syndrome 2010-04-01 no assertion criteria provided literature only

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