ClinVar Miner

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

dbSNP: rs1553856553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559680 SCV000659687 pathogenic TP63-Related Spectrum Disorders 2019-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in several individuals affected with ectodermal dysplasia, and has been observed to be de novo in at least one individual (PMID: 16691622, Invitae). ClinVar contains an entry for this variant (Variation ID: 478110). This variant is not present in population databases (ExAC no frequency). 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.
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 ACMG codes: PS4M, PM2, PP3, PP5

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