ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.802G>A (p.Glu268Lys)

dbSNP: rs2108801803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808011 SCV002058368 uncertain significance Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.843, 3CNET: 0.977, PP3_P). A missense variant is a common mechanism associated with Ectrodactyly (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003154197 SCV003842190 likely pathogenic ADULT syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 2020-12-04 criteria provided, single submitter clinical testing A homozygous missense variant in exon 6 of the TP63 gene that results in the amino acid substitution of Lysine for Glutamic acid at codon 268 was detected. The observed variant c.802G>A (p.Glu268Lys) lies in the P53 DNA-binding domain of the TP63 protein and has previously reported in patients affected with ankyloblepharon-ectodermal dysplasia clefting (Alexia et al. 2019). The variant has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT, and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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