ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.942_944del (p.Gly315del) (rs1057518137)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414331 SCV000491559 likely pathogenic not provided 2016-08-31 criteria provided, single submitter clinical testing The c.942_944delAGG variant in the TP63 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.942_944delAGG variant causes a single amino acid deletion of codon Glycine 315, denoted p.Gly315del. This deletion occurs in the DNA binding domain of the protein. The c.942_944delAGG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.942_944delAGG variant is a strong candidate for a pathogenic variant which may be related to the clinical features reported in this individual, however the possibility it may be a rare benign variant cannot be excluded.

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