ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1528A>T (p.Met510Leu)

gnomAD frequency: 0.00001  dbSNP: rs769778189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987374 SCV001136657 uncertain significance Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001858664 SCV002250892 uncertain significance TP63-Related Spectrum Disorders 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 510 of the TP63 protein (p.Met510Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP63-related conditions. ClinVar contains an entry for this variant (Variation ID: 802036). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TP63 protein 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.

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