ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)

dbSNP: rs80338915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV000008509 SCV000680456 pathogenic Char syndrome 2017-09-08 criteria provided, single submitter research This variant was identified in an Australian family of Caucasian descent. This novel missense mutation (with respect to ExAC) segregates completely with disease in 7 individuals across 3 generations. All carriers of this variant exhibit suble characteristic CHAR syndrome features, except one individual who appears asymptomatic, suggesting incomplete penetrance of this variant.
GeneDx RCV002508186 SCV002818057 likely pathogenic not provided 2022-12-27 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect; specifically, expression studies indicate R274Q results in reduced transactivation function via decreased DNA binding capacity (Zhao et al., 2001); Not observed in large population cohorts (gnomAD); Known as R274Q by alternate nomenclature; This variant is associated with the following publications: (PMID: 29555671, 11505339, 25500235)
OMIM RCV000008509 SCV000028717 pathogenic Char syndrome 2001-10-01 no assertion criteria provided literature only
GeneReviews RCV000008509 SCV000040998 not provided Char syndrome no assertion provided literature only

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