ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1612A>G (p.Thr538Ala)

gnomAD frequency: 0.00001  dbSNP: rs565094952
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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 RCV002012813 SCV002281420 uncertain significance TP63-Related Spectrum Disorders 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 538 of the TP63 protein (p.Thr538Ala). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects TP63 function (PMID: 24309930). 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: 1494162). This variant has not been reported in the literature in individuals affected with TP63-related conditions. This variant is present in population databases (rs565094952, gnomAD 0.02%).
Fulgent Genetics, Fulgent Genetics RCV002486578 SCV002776471 uncertain significance ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8 2021-11-12 criteria provided, single submitter clinical testing

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