ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del)

dbSNP: rs1294809942
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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 RCV001877272 SCV002132820 uncertain significance TP63-Related Spectrum Disorders 2023-06-06 criteria provided, single submitter clinical testing 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 and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TP63-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant, c.1834_1836del, results in the deletion of 1 amino acid(s) of the TP63 protein (p.Ser612del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002482573 SCV002792985 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 2021-07-28 criteria provided, single submitter clinical testing

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