ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.2040G>C (p.Glu680Asp)

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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 RCV003116272 SCV003789485 uncertain significance TP63-Related Spectrum Disorders 2022-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TP63-related conditions. 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. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 680 of the TP63 protein (p.Glu680Asp).
Fulgent Genetics, Fulgent Genetics RCV005029906 SCV005657989 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; Premature ovarian failure 21 2024-01-15 criteria provided, single submitter clinical testing

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