ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.289C>T (p.Arg97Cys)

gnomAD frequency: 0.00001  dbSNP: rs121908848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851711 SCV002268784 uncertain significance TP63-Related Spectrum Disorders 2024-05-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 97 of the TP63 protein (p.Arg97Cys). This variant is present in population databases (rs121908848, gnomAD 0.003%). This missense change has been observed in individual(s) with isolated ectrodactyly (PMID: 15736220). ClinVar contains an entry for this variant (Variation ID: 6549). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) did not meet the statistical confidence thresholds required to predict the impact of this variant on TP63 function. 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.
Fulgent Genetics, Fulgent Genetics RCV005031401 SCV005660616 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 2024-05-18 criteria provided, single submitter clinical testing
OMIM RCV000006924 SCV000027120 pathogenic Split hand-foot malformation 4 2005-04-01 no assertion criteria provided literature only

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