ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.739C>T (p.His247Tyr) (rs1553856553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559680 SCV000659687 pathogenic TP63-Related Spectrum Disorders 2017-12-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 247 of the TP63 protein (p.His247Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with ectodermal dysplasia (Invitae) and this variant has been reported in an individual affected with ectodermal dysplasia (PMID: 16691622). This variant has a legacy name (p.His208Tyr). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851194 SCV000993444 likely pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 2019-08-26 criteria provided, single submitter research

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