ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.322_339del (p.Gly108_Phe113del) (rs886039495)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255088 SCV000322152 likely pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing To our knowledge, the c.322_339del18 variant in the TP53 gene has not been published as apathogenic variant, nor has it been reported as a benign variant. The c.322_339del18 variant causesan in-frame deletion of six amino acids starting with codon glycine 108, denotedp.Gly108_Phe113del. The c.322_339del18 variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. Therefore, this variant is likelypathogenic; however, the possibility that it is benign cannot be excluded.

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