ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) (rs80338915)

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Total submissions: 3
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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.
GeneReviews RCV000008509 SCV000040998 pathologic Char syndrome 2013-01-02 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000008509 SCV000028717 pathogenic Char syndrome 2001-10-01 no assertion criteria provided literature only

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